#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
ZMYND11	10771	broad.mit.edu	37	10	282810	282810	+	Silent	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr10:282810G>A	ENST00000397962.3	+	5	899	c.471G>A	c.(469-471)gaG>gaA	p.E157E	ZMYND11_ENST00000402736.1_Silent_p.E157E|ZMYND11_ENST00000381591.1_Silent_p.E157E|ZMYND11_ENST00000381604.4_Silent_p.E117E|ZMYND11_ENST00000403354.1_Silent_p.E103E|ZMYND11_ENST00000509513.2_Silent_p.E157E|ZMYND11_ENST00000535374.1_De_novo_Start_InFrame|ZMYND11_ENST00000602682.1_Silent_p.E103E|ZMYND11_ENST00000381607.4_Silent_p.E63E|ZMYND11_ENST00000381584.1_Silent_p.E140E|ZMYND11_ENST00000397959.3_Silent_p.E103E|ZMYND11_ENST00000558098.2_Silent_p.E157E|ZMYND11_ENST00000381602.4_Silent_p.E117E|ZMYND11_ENST00000545619.1_Silent_p.E63E|ZMYND11_ENST00000309776.4_Silent_p.E117E			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	157					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.E117E(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)		ACAAACAGGAGATGGGCACAT	0.343																																					p.E157E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G471A	10						.						70.0	65.0	67.0					10																	282810		2203	4300	6503	272810	SO:0001819	synonymous_variant	10771	exon5			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.471G>A	10.37:g.282810G>A		Somatic		Capture	Illumina HiSeq	Phase_I	272810	NM_212479	B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Silent	SNP	ENST00000397962.3	37	CCDS7052.2																																																																																				0.343	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624	
GATA3	2625	broad.mit.edu	37	10	8100499	8100499	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr10:8100499C>T	ENST00000346208.3	+	3	928	c.473C>T	c.(472-474)cCg>cTg	p.P158L	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Missense_Mutation_p.P158L			P23771	GATA3_HUMAN	GATA binding protein 3	158					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.P158L(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						CCCACCCCGCCGAAGGACGTC	0.736			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																														p.P158L			Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C473T	10						.						33.0	40.0	37.0					10																	8100499		2201	4297	6498	8140505	SO:0001583	missense	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.473C>T	10.37:g.8100499C>T	ENSP00000341619:p.Pro158Leu	Somatic		Capture	Illumina HiSeq	Phase_I	8140505	NM_002051	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381996	0.61845	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.98249	-4.82;-4.8	5.55	5.55	0.83447	.	0.113352	0.64402	D	0.000007	D	0.98915	0.9632	M	0.85630	2.765	0.80722	D	1	D;D	0.71674	0.991;0.998	P;P	0.62491	0.666;0.903	D	0.99490	1.0950	10	0.56958	D	0.05	-33.2259	19.5043	0.95108	0.0:1.0:0.0:0.0	.	158;158	P23771;P23771-2	GATA3_HUMAN;.	L	158	ENSP00000368632:P158L;ENSP00000341619:P158L	ENSP00000341619:P158L	P	+	2	0	GATA3	8140505	1.000000	0.71417	0.987000	0.45799	0.556000	0.35491	7.706000	0.84615	2.607000	0.88179	0.561000	0.74099	CCG		0.736	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295	
RPP38	10557	broad.mit.edu	37	10	15145603	15145603	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr10:15145603C>G	ENST00000378197.4	+	3	804	c.290C>G	c.(289-291)gCt>gGt	p.A97G	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Missense_Mutation_p.A97G|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	97					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.A97G(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						AAAACAGATGCTAAGCAGCAA	0.453																																					p.A97G	GBM(118;1591 1611 9649 34378 50720)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C290G	10						.						56.0	56.0	56.0					10																	15145603		2203	4300	6503	15185609	SO:0001583	missense	10557	exon3			U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.290C>G	10.37:g.15145603C>G	ENSP00000367439:p.Ala97Gly	Somatic		Capture	Illumina HiSeq	Phase_I	15185609	NM_001097590	B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	ENST00000378197.4	37	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	C	1.036	-0.680454	0.03353	.	.	ENSG00000152464	ENST00000378203;ENST00000378201;ENST00000378202;ENST00000378197;ENST00000441850	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	4.69	-1.91	0.07641	.	1.347810	0.04963	N	0.462473	T	0.23727	0.0574	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13953	-1.0490	10	0.18276	T	0.48	-4.5374	5.3183	0.15868	0.1291:0.2882:0.4836:0.0991	.	97	P78345	RPP38_HUMAN	G	97	ENSP00000367445:A97G;ENSP00000367444:A97G;ENSP00000367439:A97G;ENSP00000402635:A97G	ENSP00000367439:A97G	A	+	2	0	RPP38	15185609	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.418000	0.07080	-0.139000	0.11414	0.650000	0.86243	GCT		0.453	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414	
CACNB2	783	broad.mit.edu	37	10	18828493	18828493	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr10:18828493G>A	ENST00000324631.7	+	14	1883	c.1823G>A	c.(1822-1824)cGt>cAt	p.R608H	CACNB2_ENST00000396576.2_Missense_Mutation_p.R553H|CACNB2_ENST00000377315.4_Missense_Mutation_p.R560H|CACNB2_ENST00000282343.8_Missense_Mutation_p.R580H|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377331.2_Missense_Mutation_p.R556H|CACNB2_ENST00000377319.3_Missense_Mutation_p.R515H|CACNB2_ENST00000377329.4_Missense_Mutation_p.R554H|RP11-499P20.2_ENST00000436485.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.R358H|CACNB2_ENST00000352115.6_Missense_Mutation_p.R584H	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	608					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)	p.R553H(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCCCGGCACCGTTCCCGGGAC	0.582																																					p.R608H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1823A	10						.						90.0	71.0	77.0					10																	18828493		2203	4300	6503	18868499	SO:0001583	missense	783	exon14			U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.1823G>A	10.37:g.18828493G>A	ENSP00000320025:p.Arg608His	Somatic		Capture	Illumina HiSeq	Phase_I	18868499	NM_201596	A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Missense_Mutation	SNP	ENST00000324631.7	37	CCDS7125.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550400	0.45383	.	.	ENSG00000165995	ENST00000324631;ENST00000352115;ENST00000377328;ENST00000282343;ENST00000377331;ENST00000396576;ENST00000377319;ENST00000377329;ENST00000377315	D;T;D;D;T;D;D;D;D	0.83506	-1.67;1.97;-1.73;-1.67;1.97;-1.7;-1.7;-1.7;-1.71	5.91	4.06	0.47325	.	0.060059	0.64402	D	0.000005	D	0.83635	0.5297	N	0.21373	0.66	0.80722	D	1	B;D;D;B;B;D;D;D;D;D;B;B;D	0.89917	0.001;1.0;1.0;0.084;0.008;1.0;1.0;0.99;0.989;1.0;0.054;0.026;1.0	B;D;D;B;B;D;D;P;P;D;B;B;D	0.87578	0.001;0.996;0.964;0.009;0.006;0.997;0.996;0.781;0.77;0.998;0.017;0.024;0.996	T	0.83127	-0.0115	10	0.39692	T	0.17	-7.3682	12.1148	0.53860	0.1375:0.0:0.8625:0.0	.	522;580;358;560;530;554;564;515;556;580;570;584;608	B7Z1U5;Q5QJA0;A6PVM6;Q5VVH1;Q6TME1;Q08289-3;Q59H42;Q08289-6;A6PVM7;Q08289-4;Q08289-7;Q08289-8;Q08289	.;.;.;.;.;.;.;.;.;.;.;.;CACB2_HUMAN	H	608;584;358;580;556;553;515;554;560	ENSP00000320025:R608H;ENSP00000344474:R584H;ENSP00000366545:R358H;ENSP00000282343:R580H;ENSP00000366548:R556H;ENSP00000379821:R553H;ENSP00000366536:R515H;ENSP00000366546:R554H;ENSP00000366532:R560H	ENSP00000282343:R580H	R	+	2	0	CACNB2	18868499	1.000000	0.71417	0.694000	0.30210	0.719000	0.41307	7.946000	0.87746	1.521000	0.48983	0.655000	0.94253	CGT		0.582	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724	
PHYHIPL	84457	broad.mit.edu	37	10	60996314	60996314	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr10:60996314delC	ENST00000373880.4	+	3	639	c.375delC	c.(373-375)agcfs	p.S125fs	PHYHIPL_ENST00000472199.1_3'UTR|PHYHIPL_ENST00000373878.3_Frame_Shift_Del_p.S99fs	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	125	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GGTTTTTAAGCCCAAGAACTG	0.428																																					p.S99fs												.	.	0			c.297delC	10						.						115.0	106.0	109.0					10																	60996314		2203	4300	6503	60666320	SO:0001589	frameshift_variant	84457	exon3			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.375delC	10.37:g.60996314delC	ENSP00000362987:p.Ser125fs	None		Capture	Illumina HiSeq	Phase_I	60666320	NM_001143774	B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Frame_Shift_Del	DEL	ENST00000373880.4	37	CCDS7254.1																																																																																				0.428	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439	
ZNF365	22891	broad.mit.edu	37	10	64382881	64382881	+	Intron	SNP	C	C	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr10:64382881C>A	ENST00000395251.1	+	2	150				ZNF365_ENST00000410046.3_Missense_Mutation_p.H334N	NM_199452.3	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365									p.H334N(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCATATAAACCACCATCTTTC	0.358																																					p.H334N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1000A	10						.						140.0	142.0	142.0					10																	64382881		2203	4300	6503	64052887	SO:0001627	intron_variant	22891	exon5			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395251.1:c.-184-20621C>A	10.37:g.64382881C>A		Somatic		Capture	Illumina HiSeq	Phase_I	64052887	NM_199451		Missense_Mutation	SNP	ENST00000395251.1	37	CCDS7265.1	.	.	.	.	.	.	.	.	.	.	C	8.364	0.833859	0.16820	.	.	ENSG00000138311	ENST00000410046	.	.	.	3.99	-5.34	0.02705	.	4.990500	0.00357	N	0.000024	T	0.13586	0.0329	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.16660	-1.0395	8	0.07813	T	0.8	-7.4315	2.8251	0.05483	0.1272:0.2113:0.1327:0.5288	.	334	Q70YC5-3	.	N	334	.	ENSP00000387091:H334N	H	+	1	0	ZNF365	64052887	0.000000	0.05858	0.000000	0.03702	0.097000	0.18754	-1.047000	0.03521	-1.293000	0.02362	-1.119000	0.02030	CAC		0.358	ZNF365-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277036.1	NM_014951	
OIT3	170392	broad.mit.edu	37	10	74660200	74660200	+	Missense_Mutation	SNP	G	G	A	rs369081761		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr10:74660200G>A	ENST00000334011.5	+	3	720	c.502G>A	c.(502-504)Gct>Act	p.A168T		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	168						nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.A168T(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)					GTGCACATGCGCTCCAGGAAC	0.458																																					p.A168T	Colon(7;19 345 13446 17537)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G502A	10						.	G	THR/ALA	0,4406		0,0,2203	60.0	55.0	57.0		502	-6.3	0.6	10		57	1,8599		0,1,4299	no	missense	OIT3	NM_152635.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	168/546	74660200	1,13005	2203	4300	6503	74330206	SO:0001583	missense	170392	exon3				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.502G>A	10.37:g.74660200G>A	ENSP00000333900:p.Ala168Thr	Somatic		Capture	Illumina HiSeq	Phase_I	74330206	NM_152635	A0AVP3|Q8N1M8	Missense_Mutation	SNP	ENST00000334011.5	37	CCDS7318.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594680	0.28445	0.0	1.16E-4	ENSG00000138315	ENST00000334011;ENST00000415725	T	0.47528	0.84	5.22	-6.34	0.01982	.	0.671285	0.13625	N	0.374159	T	0.24699	0.0599	N	0.16567	0.415	0.20307	N	0.999913	B	0.25719	0.132	B	0.20955	0.032	T	0.18461	-1.0336	10	0.14252	T	0.57	-1.5992	14.3553	0.66733	0.0:0.0644:0.7004:0.2352	.	168	Q8WWZ8	OIT3_HUMAN	T	168	ENSP00000333900:A168T	ENSP00000333900:A168T	A	+	1	0	OIT3	74330206	0.361000	0.24972	0.610000	0.28997	0.370000	0.29829	-0.299000	0.08254	-1.385000	0.02101	-0.271000	0.10264	GCT		0.458	OIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048596.1	NM_152635	
MKI67	4288	broad.mit.edu	37	10	129901497	129901497	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr10:129901497C>T	ENST00000368654.3	-	13	8982	c.8607G>A	c.(8605-8607)acG>acA	p.T2869T	MKI67_ENST00000368653.3_Silent_p.T2509T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2869	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.T2869T(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)				TGTCGGTGTGCGTGGTCTCCC	0.542																																					p.T2509T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G7527A	10						.						178.0	158.0	165.0					10																	129901497		2203	4300	6503	129791487	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.8607G>A	10.37:g.129901497C>T		Somatic		Capture	Illumina HiSeq	Phase_I	129791487	NM_001145966	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.542	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
YAP1	10413	broad.mit.edu	37	11	101981720	101981721	+	Frame_Shift_Ins	INS	-	-	C	rs564561654		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr11:101981720_101981721insC	ENST00000282441.5	+	1	529_530	c.141_142insC	c.(142-144)cccfs	p.P48fs	YAP1_ENST00000537274.1_Frame_Shift_Ins_p.P48fs|YAP1_ENST00000524575.1_5'Flank|YAP1_ENST00000345877.2_Frame_Shift_Ins_p.P48fs|RP11-732A21.2_ENST00000566440.1_RNA|YAP1_ENST00000531439.1_Frame_Shift_Ins_p.P48fs|YAP1_ENST00000526343.1_Frame_Shift_Ins_p.P48fs	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	48	Pro-rich.				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.A50fs*62(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)		CGCCGCAGGCACCCCCCGCCGG	0.757																																					p.A47fs	Colon(50;247 1103 7861 28956)											.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.141_142insC	11						.																																			101486931	SO:0001589	frameshift_variant	10413	exon1				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.147dupC	11.37:g.101981726_101981726dupC	ENSP00000282441:p.Pro48fs	Somatic		Capture	Illumina HiSeq	Phase_I	101486930	NM_001195044	B4DTY1|B7ZA01|E3WEB5|E3WEB6|E9PRV2|F5H202|K0KQ18|K0KYZ8|K0L195|K0L1G3|Q7Z574|Q8IUY9	Frame_Shift_Ins	INS	ENST00000282441.5	37	CCDS44716.1																																																																																				0.757	YAP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394151.1	NM_006106	
CTR9	9646	broad.mit.edu	37	11	10786265	10786265	+	Silent	SNP	T	T	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr11:10786265T>A	ENST00000361367.2	+	12	2010	c.1584T>A	c.(1582-1584)ccT>ccA	p.P528P		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	528					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.P528P(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)		GCGAACATCCTAATTATGTTG	0.348																																					p.P528P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1584A	11						.						58.0	54.0	55.0					11																	10786265		2201	4294	6495	10742841	SO:0001819	synonymous_variant	9646	exon12			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.1584T>A	11.37:g.10786265T>A		Somatic		Capture	Illumina HiSeq	Phase_I	10742841	NM_014633	D3DQV8|Q15015	Silent	SNP	ENST00000361367.2	37	CCDS7805.1																																																																																				0.348	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	NM_014633	
CARD16	114769	broad.mit.edu	37	11	104915281	104915281	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr11:104915281C>T	ENST00000375706.2	-	2	129	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.E38K|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.E38K	NM_001017534.1	NP_001017534.1	Q5EG05	CAR16_HUMAN	caspase recruitment domain family, member 16	38	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				regulation of apoptotic process (GO:0042981)		cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.E38K(1)		endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TCCATCTCTTCCTGGTTCAGC	0.433																																					p.E38K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G112A	11						.						354.0	318.0	330.0					11																	104915281		2202	4299	6501	104420491	SO:0001583	missense	114769	exon2				CCDS31661.1, CCDS41705.1	11q23	2008-09-15				ENSG00000204397			33701	protein-coding gene	gene with protein product		615680				11432859, 11536016	Standard	NM_052889		Approved	COP1, COP, PSEUDO-ICE		Q5EG05		ENST00000375706.2:c.112G>A	11.37:g.104915281C>T	ENSP00000364858:p.Glu38Lys	Somatic		Capture	Illumina HiSeq	Phase_I	104420491	NM_052889	Q96RJ9	Missense_Mutation	SNP	ENST00000375706.2	37	CCDS31661.1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.263589	0.80358	.	.	ENSG00000204397	ENST00000375706;ENST00000375704;ENST00000525374;ENST00000528513	T;T;T;T	0.26810	1.71;1.71;1.71;1.71	3.34	3.34	0.38264	DEATH-like (2);Caspase Recruitment (3);	0.587648	0.16152	U	0.227229	T	0.50956	0.1646	M	0.83312	2.635	0.21473	N	0.999679	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.32455	-0.9906	10	0.56958	D	0.05	.	10.3278	0.43805	0.0:1.0:0.0:0.0	.	38;38	Q5EG05;Q5EG05-2	CAR16_HUMAN;.	K	38;38;38;22	ENSP00000364858:E38K;ENSP00000364856:E38K;ENSP00000433700:E38K;ENSP00000432485:E22K	ENSP00000364856:E38K	E	-	1	0	CARD16	104420491	0.639000	0.27234	0.399000	0.26333	0.533000	0.34776	1.143000	0.31553	1.869000	0.54173	0.484000	0.47621	GAA		0.433	CARD16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388147.1		
OSBPL5	114879	broad.mit.edu	37	11	3147747	3147747	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr11:3147747C>T	ENST00000263650.7	-	3	334	c.175G>A	c.(175-177)Gat>Aat	p.D59N	OSBPL5_ENST00000389989.3_Missense_Mutation_p.D59N|OSBPL5_ENST00000542243.1_5'UTR|OSBPL5_ENST00000525498.1_Missense_Mutation_p.D11N|OSBPL5_ENST00000348039.5_Missense_Mutation_p.D59N	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	59					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)	p.D59N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		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;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCCCTTCATCCCTGGGCAGC	0.657																																					p.D59N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G175A	11						.						45.0	41.0	42.0					11																	3147747		2202	4298	6500	3104323	SO:0001583	missense	114879	exon3			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.175G>A	11.37:g.3147747C>T	ENSP00000263650:p.Asp59Asn	Somatic		Capture	Illumina HiSeq	Phase_I	3104323	NM_145638	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.754378	0.31046	.	.	ENSG00000021762	ENST00000263650;ENST00000389989;ENST00000525498;ENST00000348039;ENST00000533234;ENST00000526122;ENST00000530372;ENST00000533721;ENST00000534157	T;T;T;T;T;T;T;T	0.51325	1.46;1.44;1.41;1.44;0.89;0.89;0.79;0.71	2.98	2.98	0.34508	.	0.864843	0.09817	N	0.751970	T	0.35068	0.0919	N	0.24115	0.695	0.80722	D	1	B;B;B	0.19445	0.036;0.011;0.009	B;B;B	0.12837	0.008;0.003;0.007	T	0.11916	-1.0568	10	0.40728	T	0.16	-0.2063	11.83	0.52290	0.0:1.0:0.0:0.0	.	11;59;59	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	N	59;59;11;59;59;59;59;59;59	ENSP00000263650:D59N;ENSP00000374639:D59N;ENSP00000433342:D11N;ENSP00000302872:D59N;ENSP00000436950:D59N;ENSP00000433754:D59N;ENSP00000435812:D59N;ENSP00000432507:D59N	ENSP00000263650:D59N	D	-	1	0	OSBPL5	3104323	0.202000	0.23423	0.274000	0.24659	0.399000	0.30720	3.482000	0.53186	1.527000	0.49086	0.448000	0.29417	GAT		0.657	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2		
OR5P3	120066	broad.mit.edu	37	11	7846839	7846839	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr11:7846839C>G	ENST00000328375.1	-	1	680	c.681G>C	c.(679-681)aaG>aaC	p.K227N	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K227N(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)		TGGAGTGCATCTTCAGGATGG	0.473																																					p.K227N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G681C	11						.						103.0	86.0	92.0					11																	7846839		2187	4296	6483	7803415	SO:0001583	missense	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.681G>C	11.37:g.7846839C>G	ENSP00000332068:p.Lys227Asn	Somatic		Capture	Illumina HiSeq	Phase_I	7803415	NM_153445	Q6IFE1|Q8NGM2	Missense_Mutation	SNP	ENST00000328375.1	37	CCDS7783.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899255	0.33535	.	.	ENSG00000182334	ENST00000328375	T	0.00183	8.6	5.12	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.219079	0.31821	N	0.007009	T	0.00271	0.0008	M	0.78049	2.395	0.25616	N	0.986457	B	0.23806	0.091	B	0.30716	0.119	T	0.25745	-1.0123	10	0.66056	D	0.02	-4.6852	7.7248	0.28753	0.0:0.8162:0.0:0.1838	.	227	Q8WZ94	OR5P3_HUMAN	N	227	ENSP00000332068:K227N	ENSP00000332068:K227N	K	-	3	2	OR5P3	7803415	0.088000	0.21588	0.989000	0.46669	0.755000	0.42902	-0.385000	0.07379	1.393000	0.46605	0.650000	0.86243	AAG		0.473	OR5P3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385697.1	NM_153445	
ANO5	203859	broad.mit.edu	37	11	22272305	22272305	+	Silent	SNP	T	T	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr11:22272305T>A	ENST00000324559.8	+	11	1349	c.1032T>A	c.(1030-1032)ccT>ccA	p.P344P		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	344					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.P344P(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						TCTGTGACCCTGAGATTGGTG	0.398																																					p.P343P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1029A	11						.						228.0	183.0	198.0					11																	22272305		2203	4300	6503	22228881	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.1032T>A	11.37:g.22272305T>A		Somatic		Capture	Illumina HiSeq	Phase_I	22228881	NM_001142649		Silent	SNP	ENST00000324559.8	37	CCDS31444.1																																																																																				0.398	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599	
WT1	7490	broad.mit.edu	37	11	32410683	32410683	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr11:32410683T>C	ENST00000379079.2	-	10	1103	c.830A>G	c.(829-831)aAg>aGg	p.K277R	WT1_ENST00000332351.3_Missense_Mutation_p.K492R|WT1_ENST00000448076.3_Missense_Mutation_p.K489R|WT1_ENST00000530998.1_Missense_Mutation_p.K263R	NM_001198551.1	NP_001185480.1	P19544	WT1_HUMAN	Wilms tumor 1	424					adrenal cortex formation (GO:0035802)|adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cardiac muscle cell fate commitment (GO:0060923)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|diaphragm development (GO:0060539)|epithelial cell differentiation (GO:0030855)|germ cell development (GO:0007281)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|gonad development (GO:0008406)|heart development (GO:0007507)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|mesenchymal to epithelial transition (GO:0060231)|metanephric epithelium development (GO:0072207)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of female gonad development (GO:2000195)|negative regulation of metanephric glomerular mesangial cell proliferation (GO:0072302)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of heart growth (GO:0060421)|positive regulation of male gonad development (GO:2000020)|positive regulation of metanephric ureteric bud development (GO:2001076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior mesonephric tubule development (GO:0072166)|regulation of organ formation (GO:0003156)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|sex determination (GO:0007530)|thorax and anterior abdomen determination (GO:0007356)|tissue development (GO:0009888)|ureteric bud development (GO:0001657)|vasculogenesis (GO:0001570)|visceral serous pericardium development (GO:0061032)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|RNA binding (GO:0003723)|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 regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.K424R(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CCGGGCAAACTTTTTCTGACA	0.507			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome																												p.K277R		yes	Rec	yes	"""Denys-Drash syndrome, Frasier syndrome, Familial Wilms tumor"""	11	11p13	7490	Wilms tumour 1 gene		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A830G	11						.						187.0	170.0	176.0					11																	32410683		2202	4299	6501	32367259	SO:0001583	missense	7490	exon10	Familial Cancer Database	WAGR syndrome; ; ;incl.: Early Onset Nephrotic Syndrome-WT1 associated		CCDS7878.2, CCDS44561.1, CCDS44562.1, CCDS55750.1, CCDS55751.1	11p13	2014-09-17			ENSG00000184937	ENSG00000184937		"""Zinc fingers, C2H2-type"""	12796	protein-coding gene	gene with protein product		607102		GUD		14681303	Standard	NM_024424		Approved	WAGR, WIT-2, AWT1	uc001mtn.2	P19544	OTTHUMG00000039556	ENST00000379079.2:c.830A>G	11.37:g.32410683T>C	ENSP00000368370:p.Lys277Arg	Somatic		Capture	Illumina HiSeq	Phase_I	32367259	NM_001198551	A8K6S1|B3KSA5|Q15881|Q16256|Q16575|Q4VXV4|Q4VXV5|Q4VXV6|Q8IYZ5	Missense_Mutation	SNP	ENST00000379079.2	37	CCDS55751.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.224968	0.58668	.	.	ENSG00000184937	ENST00000379079;ENST00000332351;ENST00000530998;ENST00000452863;ENST00000448076	T;T;T;T;T	0.49720	1.84;0.77;0.77;1.84;1.84	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	0.64402	U	0.000001	T	0.45935	0.1367	N	0.04275	-0.24	0.80722	D	1	B;B;B;B;P	0.35575	0.229;0.36;0.14;0.271;0.51	B;P;P;B;P	0.53490	0.42;0.727;0.489;0.333;0.508	T	0.58160	-0.7685	10	0.54805	T	0.06	.	16.0678	0.80897	0.0:0.0:0.0:1.0	.	480;424;497;263;277	P19544-8;P19544;P19544-7;B3KSA5;P19544-6	.;WT1_HUMAN;.;.;.	R	277;492;263;472;489	ENSP00000368370:K277R;ENSP00000331327:K492R;ENSP00000435307:K263R;ENSP00000415516:K472R;ENSP00000413452:K489R	ENSP00000331327:K492R	K	-	2	0	WT1	32367259	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.036000	0.88901	2.188000	0.69820	0.459000	0.35465	AAG		0.507	WT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000095434.1	NM_000378	
TSPAN18	90139	broad.mit.edu	37	11	44940830	44940830	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr11:44940830C>T	ENST00000520358.2	+	7	814	c.399C>T	c.(397-399)gtC>gtT	p.V133V	TSPAN18_ENST00000340160.3_Silent_p.V133V			Q96SJ8	TSN18_HUMAN	tetraspanin 18	133			V -> I (in dbSNP:rs2291334). {ECO:0000269|PubMed:12975309}.			integral component of membrane (GO:0016021)		p.V133V(1)		endometrium(1)|large_intestine(6)|lung(3)	10						ACACAGACGTCTTCTCTGCCA	0.562																																					p.V133V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C399T	11						.						199.0	154.0	169.0					11																	44940830		2203	4299	6502	44897406	SO:0001819	synonymous_variant	90139	exon6			AY358087	CCDS7910.1	11p11.2	2013-02-14				ENSG00000157570		"""Tetraspanins"""	20660	protein-coding gene	gene with protein product						11756464	Standard	NM_130783		Approved	TSPAN	uc001mye.4	Q96SJ8		ENST00000520358.2:c.399C>T	11.37:g.44940830C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44897406	NM_130783	Q6UY44|Q8NBI9	Silent	SNP	ENST00000520358.2	37	CCDS7910.1	.	.	.	.	.	.	.	.	.	.	C	3.547	-0.092560	0.07053	.	.	ENSG00000157570	ENST00000518429	.	.	.	5.42	3.53	0.40419	.	.	.	.	.	T	0.59878	0.2226	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54788	-0.8241	4	.	.	.	.	10.0993	0.42495	0.0:0.8324:0.0:0.1676	.	.	.	.	F	137	.	.	L	+	1	0	TSPAN18	44897406	1.000000	0.71417	0.897000	0.35233	0.204000	0.24138	2.301000	0.43628	0.647000	0.30713	0.561000	0.74099	CTT		0.562	TSPAN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376197.3	NM_130783	
NEU3	10825	broad.mit.edu	37	11	74705632	74705632	+	Missense_Mutation	SNP	G	G	A	rs377168820		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr11:74705632G>A	ENST00000544263.1	+	3	244	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	NEU3_ENST00000294064.4_Missense_Mutation_p.R58Q|NEU3_ENST00000531509.1_Missense_Mutation_p.R58Q|NEU3_ENST00000534628.1_Missense_Mutation_p.R58Q|NEU3_ENST00000531619.1_Missense_Mutation_p.R58Q|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000532963.1_Intron|NEU3_ENST00000545272.1_Intron			Q9UQ49	NEUR3_HUMAN	sialidase 3 (membrane sialidase)	25					carbohydrate metabolic process (GO:0005975)|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)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-sialidase activity (GO:0016997)|exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)	p.R58Q(2)		kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						ATTACCTACCGGATCCCAGCC	0.547																																					p.R58Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G173A	11						.	G	GLN/ARG	0,4066		0,0,2033	121.0	126.0	124.0		173	6.0	1.0	11		124	3,8353		0,3,4175	no	missense	NEU3	NM_006656.5	43	0,3,6208	AA,AG,GG		0.0359,0.0,0.0242	probably-damaging	58/462	74705632	3,12419	2033	4178	6211	74383280	SO:0001583	missense	10825	exon2			AB008185	CCDS44682.1	11q13.5	2008-02-05				ENSG00000162139			7760	protein-coding gene	gene with protein product		604617				10405317	Standard	NM_006656		Approved		uc001ovw.3	Q9UQ49		ENST00000544263.1:c.74G>A	11.37:g.74705632G>A	ENSP00000445591:p.Arg25Gln	Somatic		Capture	Illumina HiSeq	Phase_I	74383280	NM_006656	A8K327|Q9NQE1	Missense_Mutation	SNP	ENST00000544263.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.220484	0.95139	0.0	3.59E-4	ENSG00000162139	ENST00000294064;ENST00000531509;ENST00000544263;ENST00000531619;ENST00000534628	D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.94584	0.8255	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94590	0.7787	10	0.87932	D	0	-29.2907	17.9715	0.89115	0.0:0.0:1.0:0.0	.	58	A8K327	.	Q	58;58;25;58;58	ENSP00000294064:R58Q;ENSP00000432097:R58Q;ENSP00000445591:R25Q;ENSP00000436118:R58Q;ENSP00000434754:R58Q	ENSP00000294064:R58Q	R	+	2	0	NEU3	74383280	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.066000	0.71185	2.840000	0.97914	0.655000	0.94253	CGG		0.547	NEU3-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_006656	
TENM4	26011	broad.mit.edu	37	11	78369307	78369307	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr11:78369307C>T	ENST00000278550.7	-	34	8568	c.8106G>A	c.(8104-8106)gcG>gcA	p.A2702A		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2702					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.A2702A(2)									CGCGGGCCCACGCTTGGCGCA	0.672																																					p.A2702A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G8106A	11						.						40.0	45.0	44.0					11																	78369307		2031	4185	6216	78046955	SO:0001819	synonymous_variant	26011	exon34			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.8106G>A	11.37:g.78369307C>T		Somatic		Capture	Illumina HiSeq	Phase_I	78046955	NM_001098816	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Silent	SNP	ENST00000278550.7	37	CCDS44688.1																																																																																				0.672	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
OR10S1	219873	broad.mit.edu	37	11	123847987	123847987	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr11:123847987G>T	ENST00000531945.1	-	1	501	c.412C>A	c.(412-414)Ctg>Atg	p.L138M		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L138M(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)		CAGATAGCCAGATAGCGGTCA	0.547																																					p.L138M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C412A	11						.						101.0	84.0	90.0					11																	123847987		2202	4299	6501	123353197	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.412C>A	11.37:g.123847987G>T	ENSP00000431914:p.Leu138Met	Somatic		Capture	Illumina HiSeq	Phase_I	123353197	NM_001004474	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	ENST00000531945.1	37	CCDS31701.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.470992	0.43942	.	.	ENSG00000196248	ENST00000531945	T	0.00367	7.78	4.74	1.53	0.23141	GPCR, rhodopsin-like superfamily (1);	0.000000	0.32753	U	0.005681	T	0.00300	0.0009	L	0.36672	1.1	0.26589	N	0.973238	D	0.58620	0.983	P	0.51016	0.656	T	0.53599	-0.8416	10	0.49607	T	0.09	-3.8351	2.8407	0.05528	0.18:0.1831:0.5064:0.1305	.	138	Q8NGN2	O10S1_HUMAN	M	138	ENSP00000431914:L138M	ENSP00000431914:L138M	L	-	1	2	OR10S1	123353197	0.000000	0.05858	1.000000	0.80357	0.896000	0.52359	-0.431000	0.06965	0.595000	0.29777	-0.271000	0.10264	CTG		0.547	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387265.2	NM_001004474	
C1S	716	broad.mit.edu	37	12	7169809	7169809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr12:7169809G>A	ENST00000406697.1	+	6	664	c.36G>A	c.(34-36)tgG>tgA	p.W12*	C1S_ENST00000402681.3_Intron|C1S_ENST00000328916.3_Nonsense_Mutation_p.W12*|C1S_ENST00000360817.5_Nonsense_Mutation_p.W12*			P09871	C1S_HUMAN	complement component 1, s subcomponent	12					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)	p.W12*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTTGGCATGGGTTTATGCTG	0.493																																					p.W12X	GBM(156;750 1943 12971 24779 31015)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G36A	12						.						129.0	118.0	122.0					12																	7169809		2203	4300	6503	7040070	SO:0001587	stop_gained	716	exon3				CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.36G>A	12.37:g.7169809G>A	ENSP00000385035:p.Trp12*	Somatic		Capture	Illumina HiSeq	Phase_I	7040070	NM_201442	D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Nonsense_Mutation	SNP	ENST00000406697.1	37	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	G	38	6.708150	0.97780	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000423384;ENST00000413211;ENST00000403949	.	.	.	5.77	-0.911	0.10507	.	1.466760	0.04572	N	0.393386	.	.	.	.	.	.	0.37742	D	0.925663	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	1.0081	0.01492	0.1862:0.1992:0.3132:0.3014	.	.	.	.	X	12	.	ENSP00000328173:W12X	W	+	3	0	C1S	7040070	0.468000	0.25839	0.014000	0.15608	0.614000	0.37383	-0.048000	0.11944	-0.144000	0.11314	-0.291000	0.09656	TGG		0.493	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12D	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0 	.	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	c.G35A	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	Somatic		Capture	Illumina HiSeq	Phase_I	25289551	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
CNTN1	1272	broad.mit.edu	37	12	41337805	41337805	+	Nonsense_Mutation	SNP	C	C	T	rs529139110		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr12:41337805C>T	ENST00000551295.2	+	14	1633	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	CNTN1_ENST00000360099.3_Nonsense_Mutation_p.R506*|CNTN1_ENST00000347616.1_Nonsense_Mutation_p.R506*|CNTN1_ENST00000547849.1_Nonsense_Mutation_p.R506*|CNTN1_ENST00000348761.2_Nonsense_Mutation_p.R495*|CNTN1_ENST00000547702.1_Nonsense_Mutation_p.R506*	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	506	Ig-like C2-type 6.				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.R506*(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)				AGATCCTACGCGAATTATATT	0.333																																					p.R495X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1483T	12						.						88.0	78.0	81.0					12																	41337805		2203	4299	6502	39624072	SO:0001587	stop_gained	1272	exon13			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.1516C>T	12.37:g.41337805C>T	ENSP00000447006:p.Arg506*	Somatic		Capture	Illumina HiSeq	Phase_I	39624072	NM_175038	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Nonsense_Mutation	SNP	ENST00000551295.2	37	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260627	0.80246	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	.	.	.	4.72	2.7	0.31948	.	0.131978	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2637	0.49097	0.5599:0.4401:0.0:0.0	.	.	.	.	X	506;506;506;506;506;495	.	ENSP00000325660:R506X	R	+	1	2	CNTN1	39624072	0.998000	0.40836	0.821000	0.32701	0.057000	0.15508	4.047000	0.57383	1.311000	0.45024	0.511000	0.50034	CGA		0.333	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843	
KRT81	3887	broad.mit.edu	37	12	52680993	52680993	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr12:52680993C>T	ENST00000327741.5	-	7	1208	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	380	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.Q380Q(2)		breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGCCATGTCCTGCTTGGCCT	0.672																																					p.Q380Q												.	.	2	Substitution - coding silent(2)	large_intestine(1)|prostate(1)	c.G1140A	12						.						64.0	59.0	60.0					12																	52680993		2203	4297	6500	50967260	SO:0001819	synonymous_variant	3887	exon7			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1140G>A	12.37:g.52680993C>T		Somatic		Capture	Illumina HiSeq	Phase_I	50967260	NM_002281	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Silent	SNP	ENST00000327741.5	37	CCDS31805.1																																																																																				0.672	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281	
KCNC2	3747	broad.mit.edu	37	12	75444803	75444803	+	Silent	SNP	A	A	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr12:75444803A>G	ENST00000549446.1	-	3	1662	c.982T>C	c.(982-984)Tta>Cta	p.L328L	KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000298972.1_Silent_p.L328L|KCNC2_ENST00000548513.1_Silent_p.L328L|KCNC2_ENST00000350228.2_Silent_p.L328L|KCNC2_ENST00000540018.1_Silent_p.L328L|KCNC2_ENST00000550433.1_Silent_p.L328L|KCNC2_ENST00000341669.3_Silent_p.L328L|KCNC2_ENST00000393288.2_Silent_p.L328L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	328					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.L328L(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)	CCCACCTCTAAGTAGAAAGGT	0.398																																					p.L328L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T982C	12						.						83.0	79.0	80.0					12																	75444803		2203	4300	6503	73731070	SO:0001819	synonymous_variant	3747	exon3			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.982T>C	12.37:g.75444803A>G		Somatic		Capture	Illumina HiSeq	Phase_I	73731070	NM_139137	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	CCDS9007.1																																																																																				0.398	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
PWP1	11137	broad.mit.edu	37	12	108105949	108105949	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr12:108105949T>G	ENST00000412830.3	+	15	1626	c.1458T>G	c.(1456-1458)atT>atG	p.I486M	PWP1_ENST00000541166.1_Missense_Mutation_p.I424M	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	486					transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.I486M(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ATTCATCTATTAGTGGCCCTT	0.383																																					p.I486M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1458G	12						.						138.0	131.0	134.0					12																	108105949		2203	4300	6503	106630079	SO:0001583	missense	11137	exon15			BC000067	CCDS9114.1	12q23.3	2013-06-10				ENSG00000136045		"""WD repeat domain containing"""	17015	protein-coding gene	gene with protein product	"""endonuclein"""					7828893, 11850830	Standard	NM_007062		Approved	IEF-SSP-9502	uc001tmo.1	Q13610	OTTHUMG00000169913	ENST00000412830.3:c.1458T>G	12.37:g.108105949T>G	ENSP00000387365:p.Ile486Met	Somatic		Capture	Illumina HiSeq	Phase_I	106630079	NM_007062	A8K3R6|Q7Z3X9	Missense_Mutation	SNP	ENST00000412830.3	37	CCDS9114.1	.	.	.	.	.	.	.	.	.	.	T	3.765	-0.048826	0.07407	.	.	ENSG00000136045	ENST00000412830;ENST00000541166	T;T	0.71222	-0.55;-0.55	5.86	-5.47	0.02600	.	0.955240	0.08860	N	0.883159	T	0.39118	0.1066	N	0.03608	-0.345	0.09310	N	1	B	0.19445	0.036	B	0.23018	0.043	T	0.20739	-1.0266	10	0.34782	T	0.22	.	4.2308	0.10602	0.0935:0.3803:0.286:0.2402	.	486	Q13610	PWP1_HUMAN	M	486;424	ENSP00000387365:I486M;ENSP00000445249:I424M	ENSP00000387365:I486M	I	+	3	3	PWP1	106630079	0.004000	0.15560	0.000000	0.03702	0.039000	0.13416	0.017000	0.13399	-0.913000	0.03832	-0.256000	0.11100	ATT		0.383	PWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406539.1	NM_007062	
LATS2	26524	broad.mit.edu	37	13	21549309	21549309	+	Silent	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr13:21549309G>A	ENST00000382592.4	-	8	3372	c.2967C>T	c.(2965-2967)taC>taT	p.Y989Y	LATS2_ENST00000542899.1_Silent_p.Y989Y	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.Y989Y(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)		TGGTGGGAACGTAGGGGGCTG	0.612																																					p.Y989Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2967T	13						.						132.0	135.0	134.0					13																	21549309		2203	4300	6503	20447309	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.2967C>T	13.37:g.21549309G>A		Somatic		Capture	Illumina HiSeq	Phase_I	20447309	NM_014572		Silent	SNP	ENST00000382592.4	37	CCDS9294.1																																																																																				0.612	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1		
ATP8A2	51761	broad.mit.edu	37	13	26133869	26133869	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr13:26133869G>T	ENST00000381655.2	+	15	1505	c.1363G>T	c.(1363-1365)Gaa>Taa	p.E455*	ATP8A2_ENST00000255283.8_Nonsense_Mutation_p.E415*	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	415					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.E455*(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)		TCACTTCCCAGAATTGGCAAG	0.363																																					p.E455X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1363T	13						.						102.0	95.0	97.0					13																	26133869		1826	4081	5907	25031869	SO:0001587	stop_gained	51761	exon15			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.1363G>T	13.37:g.26133869G>T	ENSP00000371070:p.Glu455*	Somatic		Capture	Illumina HiSeq	Phase_I	25031869	NM_016529	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Nonsense_Mutation	SNP	ENST00000381655.2	37	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	g	40	7.924808	0.98563	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	.	.	.	5.03	5.03	0.67393	.	0.191160	0.46145	D	0.000302	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	17.9683	0.89105	0.0:0.0:1.0:0.0	.	.	.	.	X	455;415;235	.	ENSP00000255283:E415X	E	+	1	0	ATP8A2	25031869	1.000000	0.71417	0.892000	0.35008	0.327000	0.28475	7.475000	0.81041	2.324000	0.78689	0.442000	0.29010	GAA		0.363	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
EDNRB	1910	broad.mit.edu	37	13	78492583	78492583	+	Silent	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr13:78492583G>A	ENST00000334286.5	-	1	362	c.126C>T	c.(124-126)acC>acT	p.T42T	RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000446573.1_Silent_p.T42T|EDNRB_ENST00000475537.1_5'UTR|EDNRB_ENST00000377211.4_Silent_p.T132T	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	42					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.T42T(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)	TTATCTCTGCGGTTTGCAAAA	0.627																																					p.T42T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C126T	13						.						63.0	68.0	66.0					13																	78492583		2203	4300	6503	77390584	SO:0001819	synonymous_variant	1910	exon1			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.126C>T	13.37:g.78492583G>A		Somatic		Capture	Illumina HiSeq	Phase_I	77390584	NM_001122659	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Silent	SNP	ENST00000334286.5	37	CCDS9461.1																																																																																				0.627	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
COL4A1	1282	broad.mit.edu	37	13	110831658	110831658	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr13:110831658T>A	ENST00000375820.4	-	30	2425	c.2304A>T	c.(2302-2304)gaA>gaT	p.E768D		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	768	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.E768D(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)			TCGCTCCATGTTCTCCAGGAA	0.562																																					p.E768D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2304T	13						.						88.0	93.0	91.0					13																	110831658		2203	4300	6503	109629659	SO:0001583	missense	1282	exon30			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.2304A>T	13.37:g.110831658T>A	ENSP00000364979:p.Glu768Asp	Somatic		Capture	Illumina HiSeq	Phase_I	109629659	NM_001845	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013664	0.35511	.	.	ENSG00000187498	ENST00000375820	D	0.89485	-2.52	4.7	-0.101	0.13618	.	0.262047	0.37393	N	0.002119	D	0.84579	0.5503	N	0.16233	0.39	0.80722	D	1	D	0.61080	0.989	P	0.62885	0.908	T	0.77552	-0.2545	10	0.12430	T	0.62	.	9.6342	0.39798	0.0:0.4341:0.0:0.5659	.	768	P02462	CO4A1_HUMAN	D	768	ENSP00000364979:E768D	ENSP00000364979:E768D	E	-	3	2	COL4A1	109629659	0.948000	0.32251	0.835000	0.33067	0.275000	0.26752	-0.015000	0.12634	-0.185000	0.10550	0.533000	0.62120	GAA		0.562	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
STXBP6	29091	broad.mit.edu	37	14	25326291	25326291	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr14:25326291C>T	ENST00000323944.5	-	3	678	c.227G>A	c.(226-228)cGg>cAg	p.R76Q	STXBP6_ENST00000419632.2_Missense_Mutation_p.R76Q|STXBP6_ENST00000548724.1_Missense_Mutation_p.R76Q|STXBP6_ENST00000396700.1_Missense_Mutation_p.R76Q|STXBP6_ENST00000550887.1_Missense_Mutation_p.R76Q|STXBP6_ENST00000546511.1_Missense_Mutation_p.R76Q|STXBP6_ENST00000358326.2_Missense_Mutation_p.R76Q			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	76					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R76Q(1)		central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CTGTGATCTCCGAACAAATGA	0.458																																					p.R76Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G227A	14						.						234.0	207.0	216.0					14																	25326291		2203	4300	6503	24396131	SO:0001583	missense	29091	exon3			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.227G>A	14.37:g.25326291C>T	ENSP00000324302:p.Arg76Gln	Somatic		Capture	Illumina HiSeq	Phase_I	24396131	NM_014178	D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	ENST00000323944.5	37	CCDS9634.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514520	0.64522	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.84	5.84	0.93424	.	0.100496	0.64402	D	0.000003	T	0.41511	0.1162	L	0.47716	1.5	0.54753	D	0.999987	P	0.43352	0.804	B	0.23018	0.043	T	0.46871	-0.9160	9	0.44086	T	0.13	-23.6575	17.6318	0.88111	0.0:1.0:0.0:0.0	.	76	Q8NFX7	STXB6_HUMAN	Q	76	.	ENSP00000324302:R76Q	R	-	2	0	STXBP6	24396131	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	3.221000	0.51215	2.779000	0.95612	0.655000	0.94253	CGG		0.458	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1		
CLEC14A	161198	broad.mit.edu	37	14	38724589	38724589	+	Silent	SNP	A	A	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr14:38724589A>G	ENST00000342213.2	-	1	985	c.639T>C	c.(637-639)agT>agC	p.S213S		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	213						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.S213S(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)		GGCAGAGCGCACTCACCTCGG	0.662																																					p.S213S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T639C	14						.						70.0	75.0	74.0					14																	38724589		2203	4300	6503	37794340	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.639T>C	14.37:g.38724589A>G		Somatic		Capture	Illumina HiSeq	Phase_I	37794340	NM_175060	Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	CCDS9667.1																																																																																				0.662	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060	
CLEC14A	161198	broad.mit.edu	37	14	38724649	38724649	+	Silent	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr14:38724649G>A	ENST00000342213.2	-	1	925	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	193						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.R193R(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)		GGAAGGGCGCGCGATAGCTCA	0.647																																					p.R193R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C579T	14						.						40.0	42.0	41.0					14																	38724649		2197	4287	6484	37794400	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.579C>T	14.37:g.38724649G>A		Somatic		Capture	Illumina HiSeq	Phase_I	37794400	NM_175060	Q695G9|Q6PWT6|Q8N5V5	Silent	SNP	ENST00000342213.2	37	CCDS9667.1																																																																																				0.647	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060	
SLC39A9	55334	broad.mit.edu	37	14	69908881	69908881	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr14:69908881C>A	ENST00000336643.5	+	3	979	c.301C>A	c.(301-303)Cac>Aac	p.H101N	SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000556605.1_Missense_Mutation_p.H101N|SLC39A9_ENST00000557046.1_Missense_Mutation_p.H101N|SLC39A9_ENST00000031146.4_Intron	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	101					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.H101N(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CAGCCACGACCACACACAGCT	0.458																																					p.H101N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C301A	14						.						351.0	285.0	308.0					14																	69908881		2203	4300	6503	68978634	SO:0001583	missense	55334	exon3				CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.301C>A	14.37:g.69908881C>A	ENSP00000336887:p.His101Asn	Somatic		Capture	Illumina HiSeq	Phase_I	68978634	NM_018375	G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822203	0.50739	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.65178	1.48;-0.13;-0.14	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.52661	0.1748	N	0.24115	0.695	0.80722	D	1	B;B;P	0.35226	0.009;0.435;0.491	B;B;B	0.37780	0.006;0.08;0.258	T	0.46748	-0.9169	10	0.21014	T	0.42	-7.8672	19.561	0.95373	0.0:1.0:0.0:0.0	.	101;101;101	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	N	101	ENSP00000452385:H101N;ENSP00000336887:H101N;ENSP00000451833:H101N	ENSP00000031146:H101N	H	+	1	0	SLC39A9	68978634	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.706000	0.68362	2.696000	0.92011	0.655000	0.94253	CAC		0.458	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375	
MED6	10001	broad.mit.edu	37	14	71064415	71064415	+	Silent	SNP	T	T	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr14:71064415T>A	ENST00000256379.5	-	2	131	c.102A>T	c.(100-102)tcA>tcT	p.S34S	MED6_ENST00000556044.1_5'UTR|MED6_ENST00000430055.2_Silent_p.S34S|CTD-2540L5.5_ENST00000553982.1_lincRNA|MED6_ENST00000440435.2_Silent_p.S34S|MED6_ENST00000554963.1_Silent_p.S34S	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	34					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.S34S(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)		TACTTCTTTCTGAAAAGTAAT	0.353																																					p.S34S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A102T	14						.						72.0	75.0	74.0					14																	71064415		2203	4298	6501	70134168	SO:0001819	synonymous_variant	10001	exon2			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.102A>T	14.37:g.71064415T>A		Somatic		Capture	Illumina HiSeq	Phase_I	70134168	NM_005466	B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Silent	SNP	ENST00000256379.5	37	CCDS9805.1																																																																																				0.353	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2	NM_005466	
KCNK10	54207	broad.mit.edu	37	14	88652394	88652394	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr14:88652394G>A	ENST00000340700.5	-	7	1553	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	KCNK10_ENST00000319231.5_Missense_Mutation_p.R373W|KCNK10_ENST00000312350.5_Missense_Mutation_p.R373W	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	368					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.R373W(1)|p.R368W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GTGGCCGCCCGCTGCAGCTTA	0.652																																					p.R373W												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1117T	14						.						27.0	25.0	26.0					14																	88652394		2198	4292	6490	87722147	SO:0001583	missense	54207	exon7			AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1102C>T	14.37:g.88652394G>A	ENSP00000343104:p.Arg368Trp	Somatic		Capture	Illumina HiSeq	Phase_I	87722147	NM_138317	B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607785	0.66558	.	.	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.93712	-3.24;-3.27;-3.25	5.75	3.75	0.43078	.	0.108228	0.64402	D	0.000012	D	0.95277	0.8468	L	0.55990	1.75	0.58432	D	0.999991	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.95207	0.8322	10	0.87932	D	0	.	14.7224	0.69317	0.0:0.0:0.743:0.257	.	368;373;373	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	W	368;373;373	ENSP00000343104:R368W;ENSP00000310568:R373W;ENSP00000312811:R373W	ENSP00000310568:R373W	R	-	1	2	KCNK10	87722147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.826000	0.39092	2.719000	0.93026	0.655000	0.94253	CGG		0.652	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	
UBR7	55148	broad.mit.edu	37	14	93688696	93688696	+	Silent	SNP	C	C	T	rs142330333		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr14:93688696C>T	ENST00000013070.6	+	10	1397	c.1161C>T	c.(1159-1161)ctC>ctT	p.L387L	UBR7_ENST00000416753.1_Silent_p.L311L	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	387							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L387L(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AAGACTATCTCAAGAGATTTG	0.294																																					p.L311L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C933T	14						.						94.0	97.0	96.0					14																	93688696		2203	4300	6503	92758449	SO:0001819	synonymous_variant	55148	exon9			AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.1161C>T	14.37:g.93688696C>T		Somatic		Capture	Illumina HiSeq	Phase_I	92758449	NM_001100417	Q86U21|Q86UA9|Q96BY0|Q9NVV6	Silent	SNP	ENST00000013070.6	37	CCDS9909.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.708|8.708	0.911456|0.911456	0.17833|0.17833	.|.	.|.	ENSG00000012963|ENSG00000012963	ENST00000555329|ENST00000553857	.|.	.|.	.|.	5.6|5.6	2.7|2.7	0.31948|0.31948	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59280	.|0.2182	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52616	.|-0.8552	.|4	.|.	.|.	.|.	-23.3446|-23.3446	10.1341|10.1341	0.42695|0.42695	0.2233:0.3432:0.4336:0.0|0.2233:0.3432:0.4336:0.0	.|.	.|.	.|.	.|.	X|L	86|139	.|.	.|.	Q|S	+|+	1|2	0|0	UBR7|UBR7	92758449|92758449	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.263000|0.263000	0.18478|0.18478	0.360000|0.360000	0.24265|0.24265	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.294	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748	
USP50	373509	broad.mit.edu	37	15	50835852	50835852	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr15:50835852T>G	ENST00000532404.1	-	3	560	c.387A>C	c.(385-387)caA>caC	p.Q129H	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	134	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.Q134H(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		CCTGAGCATCTTGTTGCATCT	0.413																																					p.Q129H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A387C	15						.						69.0	63.0	65.0					15																	50835852		1862	4106	5968	48623144	SO:0001583	missense	373509	exon3			AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.387A>C	15.37:g.50835852T>G	ENSP00000434676:p.Gln129His	Somatic		Capture	Illumina HiSeq	Phase_I	48623144	NM_203494	E9PP86	Missense_Mutation	SNP	ENST00000532404.1	37	CCDS53944.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869873	0.51588	.	.	ENSG00000170236	ENST00000532404	T	0.38077	1.16	5.95	-2.85	0.05734	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	L	0.46157	1.445	0.35206	D	0.774672	P	0.42375	0.778	P	0.45406	0.479	T	0.49351	-0.8949	10	0.51188	T	0.08	-18.0855	13.7743	0.63044	0.0:0.669:0.0:0.331	.	134	Q70EL3	UBP50_HUMAN	H	129	ENSP00000434676:Q129H	ENSP00000434676:Q129H	Q	-	3	2	USP50	48623144	0.971000	0.33674	0.988000	0.46212	0.878000	0.50629	-0.131000	0.10482	-0.277000	0.09193	0.528000	0.53228	CAA		0.413	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1		
DYX1C1	161582	broad.mit.edu	37	15	55759310	55759310	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr15:55759310C>T	ENST00000321149.3	-	5	822	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	DYX1C1_ENST00000348518.3_Missense_Mutation_p.R152Q|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Missense_Mutation_p.R152Q|DYX1C1_ENST00000457155.2_Missense_Mutation_p.R152Q|DYX1C1_ENST00000448430.2_Missense_Mutation_p.R152Q	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	152					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)	p.R152Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		ggcttttatccgttcattttc	0.289																																					p.R152Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G455A	15						.						63.0	56.0	58.0					15																	55759310		2132	4199	6331	53546602	SO:0001583	missense	161582	exon5				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.455G>A	15.37:g.55759310C>T	ENSP00000323275:p.Arg152Gln	Somatic		Capture	Illumina HiSeq	Phase_I	53546602	NM_001033559	Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834128	0.71373	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	3.56	3.56	0.40772	HSP20-like chaperone (1);	0.341617	0.25484	U	0.030351	T	0.27489	0.0675	L	0.32530	0.975	0.36813	D	0.886017	D;P;D	0.63880	0.975;0.874;0.993	P;B;P	0.47705	0.555;0.104;0.52	T	0.13098	-1.0522	10	0.38643	T	0.18	.	10.9729	0.47448	0.0:1.0:0.0:0.0	.	152;152;152	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	Q	152	ENSP00000403412:R152Q;ENSP00000370054:R152Q;ENSP00000402640:R152Q;ENSP00000323275:R152Q;ENSP00000299561:R152Q	ENSP00000323275:R152Q	R	-	2	0	DYX1C1	53546602	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	2.516000	0.45520	2.285000	0.76669	0.563000	0.77884	CGG		0.289	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810	
ANKDD1A	348094	broad.mit.edu	37	15	65239745	65239745	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr15:65239745G>A	ENST00000380230.3	+	13	1312	c.1283G>A	c.(1282-1284)tGg>tAg	p.W428*	ANKDD1A_ENST00000357698.3_Nonsense_Mutation_p.W396*|ANKDD1A_ENST00000395723.1_Nonsense_Mutation_p.W305*|ANKDD1A_ENST00000395720.1_Nonsense_Mutation_p.W428*	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	428	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)			p.W428*(1)		NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CCCCGTGAGTGGAAGAAGCTG	0.587																																					p.W428X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1283A	15						.						60.0	47.0	51.0					15																	65239745		2202	4299	6501	63026798	SO:0001587	stop_gained	348094	exon13				CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1283G>A	15.37:g.65239745G>A	ENSP00000369579:p.Trp428*	Somatic		Capture	Illumina HiSeq	Phase_I	63026798	NM_182703	Q495B2|Q495B3|Q8N7A0|Q8NBS5	Nonsense_Mutation	SNP	ENST00000380230.3	37	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351022	0.82132	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	.	.	.	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-18.1003	16.0923	0.81101	0.0:0.0:1.0:0.0	.	.	.	.	X	428;396;428;305	.	ENSP00000350329:W396X	W	+	2	0	ANKDD1A	63026798	1.000000	0.71417	1.000000	0.80357	0.396000	0.30629	9.170000	0.94795	2.388000	0.81334	0.609000	0.83330	TGG		0.587	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703	
ZNF592	9640	broad.mit.edu	37	15	85345486	85345486	+	Silent	SNP	C	C	T	rs370924552		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr15:85345486C>T	ENST00000560079.2	+	11	3954	c.3666C>T	c.(3664-3666)gcC>gcT	p.A1222A	ZNF592_ENST00000299927.3_Silent_p.A1222A	NM_014630.2	NP_055445.2	Q92610	ZN592_HUMAN	zinc finger protein 592	1222					cell death (GO:0008219)|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.A1222A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAGAATGTGCCGGTGAGCCTT	0.632																																					p.A1222A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3666T	15						.	C		3,4403	6.2+/-15.9	0,3,2200	40.0	43.0	42.0		3666	-5.2	0.0	15		42	0,8596		0,0,4298	no	coding-synonymous	ZNF592	NM_014630.2		0,3,6498	TT,TC,CC		0.0,0.0681,0.0231		1222/1268	85345486	3,12999	2203	4298	6501	83146490	SO:0001819	synonymous_variant	9640	exon11			D86966	CCDS32317.1	15q25.2	2011-03-15				ENSG00000166716		"""Zinc fingers, C2H2-type"""	28986	protein-coding gene	gene with protein product		613624	"""spinocerebellar ataxia, autosomal recessive 5"""	SCAR5		9039502, 12030328, 20531441	Standard	NM_014630		Approved	KIAA0211, CAMOS	uc002bld.3	Q92610		ENST00000560079.2:c.3666C>T	15.37:g.85345486C>T		Somatic		Capture	Illumina HiSeq	Phase_I	83146490	NM_014630	Q2M1T2|Q504Y9	Silent	SNP	ENST00000560079.2	37	CCDS32317.1																																																																																				0.632	ZNF592-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418779.2	NM_014630	
ACAN	176	broad.mit.edu	37	15	89391161	89391161	+	Missense_Mutation	SNP	C	C	T	rs143697605		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr15:89391161C>T	ENST00000561243.1	+	8	1624	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ACAN_ENST00000439576.2_Missense_Mutation_p.R542W|ACAN_ENST00000352105.7_Missense_Mutation_p.R542W|ACAN_ENST00000558207.1_Missense_Mutation_p.R542W|ACAN_ENST00000559004.1_Missense_Mutation_p.R542W			P16112	PGCA_HUMAN	aggrecan	542	G2-B.|Link 3. {ECO:0000255|PROSITE- ProRule:PRU00323}.				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.R542W(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)			TGTGAGCCCCCGGACCCCATG	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11533	0.0		0.0	False		,,,				2504	0.0				p.R542W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1624T	15						.						72.0	75.0	74.0					15																	89391161		1949	4147	6096	87192165	SO:0001583	missense	176	exon9			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.1624C>T	15.37:g.89391161C>T	ENSP00000453342:p.Arg542Trp	Somatic		Capture	Illumina HiSeq	Phase_I	87192165	NM_001135	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	CCDS53970.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.01	2.707015	0.48412	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.13901	2.55;2.55	5.35	3.4	0.38934	.	.	.	.	.	T	0.49541	0.1563	H	0.97103	3.94	0.40088	D	0.976221	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63817	-0.6551	9	0.87932	D	0	-18.098	11.6973	0.51551	0.3215:0.6785:0.0:0.0	.	542;542;542	E7ENV9;E7EX88;Q6PID9	.;.;.	W	542	ENSP00000387356:R542W;ENSP00000341615:R542W	ENSP00000268134:R542W	R	+	1	2	ACAN	87192165	0.202000	0.23423	0.676000	0.29932	0.976000	0.68499	0.725000	0.25970	0.581000	0.29539	0.563000	0.77884	CGG		0.607	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135	
PRC1	9055	broad.mit.edu	37	15	91524882	91524882	+	Silent	SNP	C	C	T	rs549719996		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr15:91524882C>T	ENST00000361188.5	-	5	1730	c.519G>A	c.(517-519)gaG>gaA	p.E173E	PRC1_ENST00000394249.3_Silent_p.E173E|PRC1_ENST00000442656.2_Silent_p.E132E|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Silent_p.E173E|PRC1_ENST00000556129.1_5'Flank					protein regulator of cytokinesis 1									p.E173E(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					TACTGACAAACTCCTCACGCC	0.408																																					p.E173E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G519A	15						.						120.0	107.0	112.0					15																	91524882		2198	4298	6496	89325886	SO:0001819	synonymous_variant	9055	exon5			AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.519G>A	15.37:g.91524882C>T		Somatic		Capture	Illumina HiSeq	Phase_I	89325886	NM_003981		Silent	SNP	ENST00000361188.5	37	CCDS45352.1																																																																																				0.408	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981	
ANKS3	124401	broad.mit.edu	37	16	4755177	4755178	+	Missense_Mutation	DNP	CA	CA	AT			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	CA	CA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr16:4755177_4755178CA>AT	ENST00000304283.4	-	8	1080_1081	c.786_787TG>AT	c.(784-789)ggTGtc>ggATtc	p.V263F	ANKS3_ENST00000450067.2_Missense_Mutation_p.V57F|ANKS3_ENST00000585773.1_Missense_Mutation_p.V190F|ANKS3_ENST00000446014.2_Missense_Mutation_p.V134F	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	263								p.G262>?(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGGATGCTGACACCCTTCTTCC	0.599																																					.												.	.	1	Complex(1)	large_intestine(1)	c.786_787AT	16						.																																			4695179	SO:0001583	missense	124401	exon8			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.786_787delinsAT	16.37:g.4755177_4755178delinsAT	ENSP00000304586:p.Val263Phe	Somatic		Capture	Illumina HiSeq	Phase_I	4695178	NM_133450	B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	DNP	ENST00000304283.4	37	CCDS10520.1																																																																																				0.599	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450	
CNEP1R1	255919	broad.mit.edu	37	16	50063697	50063697	+	Silent	SNP	T	T	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr16:50063697T>A	ENST00000427478.2	+	3	213	c.159T>A	c.(157-159)ccT>ccA	p.P53P	CNEP1R1_ENST00000562576.1_Silent_p.P53P|CNEP1R1_ENST00000458059.3_Silent_p.P70P|CNEP1R1_ENST00000565556.1_Silent_p.P21P	NM_001281789.1	NP_001268718.1	Q8N9A8	NEPR1_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1	53					lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965)		p.P70P(1)									TAATAGACCCTGAGACACAAA	0.323																																					p.P70P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T210A	16						.						167.0	149.0	155.0					16																	50063697		1844	4084	5928	48621198	SO:0001819	synonymous_variant	255919	exon4			AK095420	CCDS45480.1, CCDS61931.1	16q12.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000205423	ENSG00000205423			26759	protein-coding gene	gene with protein product	"""nuclear envelope phosphatase 1-regulatory subunit 1"""		"""chromosome 16 open reading frame 69"", ""transmembrane protein 188"""	C16orf69, TMEM188		22134922	Standard	NM_153261		Approved	FLJ38101, NEP1-R1	uc002eft.3	Q8N9A8		ENST00000427478.2:c.159T>A	16.37:g.50063697T>A		Somatic		Capture	Illumina HiSeq	Phase_I	48621198	NM_153261	Q4G1A9|Q5H9V0|Q8NE06	Silent	SNP	ENST00000427478.2	37																																																																																					0.323	CNEP1R1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153261	
CDH13	1012	broad.mit.edu	37	16	83065743	83065743	+	Missense_Mutation	SNP	G	G	A	rs200439811		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr16:83065743G>A	ENST00000566620.1	+	3	576	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	CDH13_ENST00000431540.3_Missense_Mutation_p.V96I|CDH13_ENST00000565636.1_Missense_Mutation_p.V96I|CDH13_ENST00000268613.10_Missense_Mutation_p.V143I|CDH13_ENST00000428848.3_Missense_Mutation_p.V96I|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000446376.2_Missense_Mutation_p.V96I	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	96					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.V96I(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AACTCTGTTCGTCCATGCACG	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		19727	0.0		0.0	False		,,,				2504	0.001				p.V96I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G286A	16						.	G	ILE/VAL,ILE/VAL,,ILE/VAL,ILE/VAL,ILE/VAL	1,3933		0,1,1966	72.0	72.0	72.0		427,286,,286,286,286	1.8	0.9	16		72	0,8288		0,0,4144	yes	missense,missense,intron,missense,missense,missense	CDH13	NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001220491.1,NM_001220492.1,NM_001257.4	29,29,,29,29,29	0,1,6110	AA,AG,GG		0.0,0.0254,0.0082	benign,benign,,benign,benign,benign	143/761,96/675,,96/191,96/176,96/714	83065743	1,12221	1967	4144	6111	81623244	SO:0001583	missense	1012	exon3			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.286G>A	16.37:g.83065743G>A	ENSP00000454435:p.Val96Ile	Somatic		Capture	Illumina HiSeq	Phase_I	81623244	NM_001257	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	2.894	-0.228968	0.06022	2.54E-4	0.0	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000431540;ENST00000446376	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.49	1.76	0.24704	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.26557	0.0649	N	0.08118	0	0.19945	N	0.99994	B;B;B;B	0.26602	0.036;0.154;0.005;0.024	B;B;B;B	0.30251	0.003;0.113;0.012;0.005	T	0.27739	-1.0065	9	0.02654	T	1	.	8.0743	0.30708	0.4015:0.0:0.5985:0.0	.	96;143;96;96	B7Z590;B7Z9B1;A8W477;P55290	.;.;.;CAD13_HUMAN	I	143;96;96;96;96	ENSP00000268613:V143I;ENSP00000394557:V96I;ENSP00000408632:V96I;ENSP00000388804:V96I	ENSP00000268613:V143I	V	+	1	0	CDH13	81623244	0.353000	0.24904	0.941000	0.38009	0.603000	0.37013	0.094000	0.15107	0.703000	0.31848	0.491000	0.48974	GTC		0.522	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
FAM104A	84923	broad.mit.edu	37	17	71228436	71228437	+	Frame_Shift_Ins	INS	-	-	C	rs201327693	byFrequency	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr17:71228436_71228437insC	ENST00000403627.3	-	1	69_70	c.9_10insG	c.(7-12)gggcgcfs	p.R4fs	C17orf80_ENST00000426147.2_5'Flank|C17orf80_ENST00000359042.2_5'Flank|FAM104A_ENST00000583024.1_Frame_Shift_Ins_p.R4fs|FAM104A_ENST00000583178.1_Intron|C17orf80_ENST00000268942.8_5'Flank|C17orf80_ENST00000255557.4_5'UTR|C17orf80_ENST00000582793.1_5'Flank|FAM104A_ENST00000405159.3_Frame_Shift_Ins_p.R4fs|C17orf80_ENST00000577615.1_5'Flank|FAM104A_ENST00000581110.1_Frame_Shift_Ins_p.R4fs|C17orf80_ENST00000535032.2_5'Flank	NM_032837.2	NP_116226.2	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	4								p.R4fs*8(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTGCTCCGCGCCCCCCCATGT	0.723																																					p.R4fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.10_11insG	17						.																																			68740032	SO:0001589	frameshift_variant	84923	exon1			AK027681	CCDS11693.2, CCDS45766.1, CCDS74143.1, CCDS74144.1	17q25.1	2005-12-16			ENSG00000133193	ENSG00000133193			25918	protein-coding gene	gene with protein product							Standard	NM_032837		Approved	FLJ14775	uc002jjj.4	Q969W3	OTTHUMG00000150564	ENST00000403627.3:c.10dupG	17.37:g.71228443_71228443dupC	ENSP00000384648:p.Arg4fs	Somatic		Capture	Illumina HiSeq	Phase_I	68740031	NM_001098832	B4E339	Frame_Shift_Ins	INS	ENST00000403627.3	37	CCDS11693.2																																																																																				0.723	FAM104A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318935.1	NM_032837	
RAI1	10743	broad.mit.edu	37	17	17700969	17700969	+	Silent	SNP	T	T	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr17:17700969T>C	ENST00000353383.1	+	3	5176	c.4707T>C	c.(4705-4707)gaT>gaC	p.D1569D	RAI1_ENST00000261641.6_Silent_p.D1569D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1569					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.D1569D(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGCCCCTGGATCCCGCAGAGC	0.642																																					p.D1569D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T4707C	17						.						53.0	62.0	59.0					17																	17700969		2203	4300	6503	17641694	SO:0001819	synonymous_variant	10743	exon3			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.4707T>C	17.37:g.17700969T>C		Somatic		Capture	Illumina HiSeq	Phase_I	17641694	NM_030665	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Silent	SNP	ENST00000353383.1	37	CCDS11188.1																																																																																				0.642	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665	
SLC13A2	9058	broad.mit.edu	37	17	26817534	26817534	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr17:26817534C>T	ENST00000314669.5	+	3	714	c.294C>T	c.(292-294)atC>atT	p.I98I	SLC13A2_ENST00000545060.1_Silent_p.I55I|SLC13A2_ENST00000444914.3_Silent_p.I147I|SLC13A2_ENST00000537681.1_Silent_p.I27I	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	98					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.I98I(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)	TGGTGGCCATCGCGGTGGAAC	0.627																																					p.I55I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C165T	17						.						134.0	110.0	118.0					17																	26817534		2203	4300	6503	23841661	SO:0001819	synonymous_variant	9058	exon2			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.294C>T	17.37:g.26817534C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23841661	NM_001145976	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	CCDS11231.1																																																																																				0.627	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984	
ASIC2	40	broad.mit.edu	37	17	32483405	32483405	+	Silent	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr17:32483405G>A	ENST00000359872.6	-	1	908	c.147C>T	c.(145-147)ttC>ttT	p.F49F		NM_001094.4	NP_001085.2	Q16515	ASIC2_HUMAN	acid-sensing (proton-gated) ion channel 2	49					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.F49F(1)								Amiloride(DB00594)	GAGAGCCCACGAAGGCCACTG	0.592																																					p.F49F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C147T	17						.						47.0	53.0	51.0					17																	32483405		2203	4298	6501	29507518	SO:0001819	synonymous_variant	40	exon1			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.147C>T	17.37:g.32483405G>A		Somatic		Capture	Illumina HiSeq	Phase_I	29507518	NM_001094	E9PBX2|Q13553|Q6DJU1|Q8N3E2	Silent	SNP	ENST00000359872.6	37	CCDS42296.1																																																																																				0.592	ASIC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447552.1	NM_183377, NM_001094	
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr17:7577022G>A	ENST00000269305.4	-	8	1105	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R306*	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	306	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)	TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)																											p.R306X	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,large_intestine,rectum,Substitution - Nonsense,0 	.	147	Substitution - Nonsense(133)|Whole gene deletion(8)|Unknown(3)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(39)|breast(21)|upper_aerodigestive_tract(15)|ovary(11)|central_nervous_system(10)|oesophagus(10)|stomach(8)|lung(8)|endometrium(6)|bone(4)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|biliary_tract(3)|kidney(2)|NS(2)|urinary_tract(1)|liver(1)	c.C916T	17	GRCh37	CM971506	TP53	M	rs121913344	.						120.0	106.0	110.0					17																	7577022		2203	4300	6503	7517747	SO:0001587	stop_gained	7157	exon8	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.916C>T	17.37:g.7577022G>A	ENSP00000269305:p.Arg306*	Somatic		Capture	Illumina HiSeq	Phase_I	7517747	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782988	0.90282	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.26	3.21	0.36854	.	1.348720	0.05032	N	0.474808	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.4785	0.44678	0.0:0.0:0.6334:0.3666	.	.	.	.	X	306;306;306;306;306;295;174	.	ENSP00000269305:R306X	R	-	1	2	TP53	7517747	1.000000	0.71417	0.970000	0.41538	0.345000	0.29048	2.280000	0.43443	0.735000	0.32537	0.561000	0.74099	CGA		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
RARA	5914	broad.mit.edu	37	17	38487497	38487497	+	Silent	SNP	G	G	A	rs563927918		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr17:38487497G>A	ENST00000254066.5	+	2	482	c.27G>A	c.(25-27)ccG>ccA	p.P9P	RARA_ENST00000394089.2_Silent_p.P9P|RARA_ENST00000425707.3_Silent_p.P9P	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	9	Modulating.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|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 granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|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 neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)	p.P9P(1)		breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCTCCTGCCCGACACCTGGGG	0.667			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								g|||	1	0.000199681	0.0008	0.0	5008	,	,		17119	0.0		0.0	False		,,,				2504	0.0				p.P9P			Dom	yes		17	17q12	5914	"""retinoic acid receptor, alpha"""		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G27A	17						.																																			35741023	SO:0001819	synonymous_variant	5914	exon2			X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.27G>A	17.37:g.38487497G>A		Somatic		Capture	Illumina HiSeq	Phase_I	35741023	NM_001145302	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Silent	SNP	ENST00000254066.5	37	CCDS11366.1																																																																																				0.667	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257136.2		
PTPN2	5771	broad.mit.edu	37	18	12836809	12836809	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr18:12836809C>G	ENST00000309660.5	-	3	335	c.242G>C	c.(241-243)aGg>aCg	p.R81T	PTPN2_ENST00000353319.4_Missense_Mutation_p.R81T|PTPN2_ENST00000591115.1_Missense_Mutation_p.R81T|PTPN2_ENST00000589086.1_5'Flank|PTPN2_ENST00000327283.3_Missense_Mutation_p.R81T|PTPN2_ENST00000591497.1_Missense_Mutation_p.R52T	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	81	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)	p.R81T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GATGTAACTCCTTTGTGCCTC	0.338																																					p.R81T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G242C	18						.						270.0	240.0	250.0					18																	12836809		2203	4300	6503	12826809	SO:0001583	missense	5771	exon3			M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.242G>C	18.37:g.12836809C>G	ENSP00000311857:p.Arg81Thr	Somatic		Capture	Illumina HiSeq	Phase_I	12826809	NM_080422	A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866746	0.91511	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	D;D;D	0.83837	-1.77;-1.77;-1.77	5.96	5.96	0.96718	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.56097	D	0.000024	D	0.93242	0.7847	M	0.89715	3.055	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999	D;D;D;D;D	0.81914	0.995;0.986;0.989;0.992;0.992	D	0.93614	0.6941	10	0.87932	D	0	.	20.422	0.99049	0.0:1.0:0.0:0.0	.	81;81;58;81;81	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	T	81;81;58;81	ENSP00000320298:R81T;ENSP00000320546:R81T;ENSP00000311857:R81T	ENSP00000311857:R81T	R	-	2	0	PTPN2	12826809	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	7.304000	0.78882	2.832000	0.97577	0.655000	0.94253	AGG		0.338	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423	
ZBTB14	7541	broad.mit.edu	37	18	5290978	5290978	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr18:5290978T>A	ENST00000357006.4	-	4	1567	c.1229A>T	c.(1228-1230)aAt>aTt	p.N410I	ZBTB14_ENST00000400143.3_Missense_Mutation_p.N410I	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1	O43829	ZBT14_HUMAN	zinc finger and BTB domain containing 14	410					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)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.N410I(1)									ACTGTGCATATTGTTCTCGTG	0.527																																					p.N410I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1229T	18						.						213.0	159.0	177.0					18																	5290978		2203	4300	6503	5280978	SO:0001583	missense	7541	exon3			D89859	CCDS11837.1	18p11.31	2013-09-19	2013-01-08	2013-01-08	ENSG00000198081	ENSG00000198081		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12860	protein-coding gene	gene with protein product		602126	"""zinc finger protein 161 homolog (mouse)"", ""zinc finger protein 161"", ""ZFP161 zinc finger protein"""	ZFP161		9244432	Standard	NM_001243702		Approved	ZNF478	uc010dkp.3	O43829	OTTHUMG00000131563	ENST00000357006.4:c.1229A>T	18.37:g.5290978T>A	ENSP00000349503:p.Asn410Ile	Somatic		Capture	Illumina HiSeq	Phase_I	5280978	NM_003409	O00403|Q2TB80	Missense_Mutation	SNP	ENST00000357006.4	37	CCDS11837.1	.	.	.	.	.	.	.	.	.	.	T	10.44	1.351594	0.24512	.	.	ENSG00000198081	ENST00000357006;ENST00000400143	T;T	0.05925	3.37;3.37	5.92	5.92	0.95590	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	0.06416	0.0165	N	0.24115	0.695	0.80722	D	1	P	0.44344	0.833	P	0.45343	0.477	T	0.17077	-1.0381	10	0.02654	T	1	-31.7937	16.356	0.83235	0.0:0.0:0.0:1.0	.	410	O43829	ZF161_HUMAN	I	410	ENSP00000349503:N410I;ENSP00000383009:N410I	ENSP00000349503:N410I	N	-	2	0	ZFP161	5280978	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.099000	0.64554	2.253000	0.74438	0.528000	0.53228	AAT		0.527	ZBTB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254425.1	NM_003409	
FHOD3	80206	broad.mit.edu	37	18	34298571	34298571	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr18:34298571C>T	ENST00000359247.4	+	15	2734	c.2734C>T	c.(2734-2736)Cga>Tga	p.R912*	FHOD3_ENST00000257209.4_Nonsense_Mutation_p.R929*|FHOD3_ENST00000445677.1_Nonsense_Mutation_p.R891*|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000590592.1_Nonsense_Mutation_p.R1104*|FHOD3_ENST00000591635.1_Nonsense_Mutation_p.R125*	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	912	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				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.R929*(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)				TAAAAACAACCGACGCTGCAG	0.478																																					p.R929X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2785T	18						.						128.0	129.0	129.0					18																	34298571		2203	4300	6503	32552569	SO:0001587	stop_gained	80206	exon16			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.2734C>T	18.37:g.34298571C>T	ENSP00000352186:p.Arg912*	Somatic		Capture	Illumina HiSeq	Phase_I	32552569	NM_025135	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Nonsense_Mutation	SNP	ENST00000359247.4	37		.	.	.	.	.	.	.	.	.	.	C	38	7.123295	0.98077	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	.	.	.	3.73	1.69	0.24217	.	0.534094	0.16812	N	0.198533	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	1.5834	0.02639	0.2827:0.4068:0.1907:0.1198	.	.	.	.	X	929;912;891	.	ENSP00000257209:R929X	R	+	1	2	FHOD3	32552569	0.997000	0.39634	0.982000	0.44146	0.998000	0.95712	2.141000	0.42168	0.869000	0.35703	0.555000	0.69702	CGA		0.478	FHOD3-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460884.1	XM_371114	
ZNF878	729747	broad.mit.edu	37	19	12155741	12155741	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:12155741G>A	ENST00000547628.1	-	4	612	c.475C>T	c.(475-477)Cgt>Tgt	p.R159C	CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.R206C|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	159					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						TCATGTCTACGAACAGAACTG	0.408																																					p.R206C												.	.	0			c.C616T	19						.						136.0	148.0	144.0					19																	12155741		2150	4276	6426	12016741	SO:0001583	missense	729747	exon5				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.475C>T	19.37:g.12155741G>A	ENSP00000447931:p.Arg159Cys	Somatic		Capture	Illumina HiSeq	Phase_I	12016741	NM_001080404		Missense_Mutation	SNP	ENST00000547628.1	37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	g	13.70	2.314169	0.40996	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.22539	1.95	1.19	-2.37	0.06643	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37433	0.1003	M	0.77103	2.36	0.09310	N	1	D	0.89917	1.0	D	0.69479	0.964	T	0.20042	-1.0287	9	0.54805	T	0.06	.	4.4054	0.11407	0.0:0.192:0.4247:0.3832	.	159	C9JN71	ZN878_HUMAN	C	159;206	ENSP00000447931:R159C	ENSP00000447931:R159C	R	-	1	0	AC022415.4;ZNF878	12016741	0.000000	0.05858	0.000000	0.03702	0.681000	0.39784	-0.803000	0.04540	-0.219000	0.10003	0.186000	0.17326	CGT		0.408	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404	
ZNF44	51710	broad.mit.edu	37	19	12384624	12384624	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:12384624C>A	ENST00000356109.5	-	5	708	c.590G>T	c.(589-591)gGc>gTc	p.G197V	ZNF44_ENST00000355684.5_Missense_Mutation_p.G149V	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	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)	p.G149V(1)		ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		ATAACTTAAGCCTTTCCCACA	0.428																																					p.G149V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G446T	19						.						119.0	119.0	119.0					19																	12384624		2199	4293	6492	12245624	SO:0001583	missense	51710	exon4			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.590G>T	19.37:g.12384624C>A	ENSP00000348419:p.Gly197Val	Somatic		Capture	Illumina HiSeq	Phase_I	12245624	NM_016264	B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Missense_Mutation	SNP	ENST00000356109.5	37	CCDS54223.1	.	.	.	.	.	.	.	.	.	.	C	4.615	0.114233	0.08831	.	.	ENSG00000197857	ENST00000393337;ENST00000356109;ENST00000457673;ENST00000355684	T;T;T	0.26810	1.71;1.71;4.81	0.832	-0.498	0.12019	Zinc finger, C2H2 (1);	.	.	.	.	T	0.13628	0.0330	N	0.16478	0.41	.	.	.	B;B	0.34399	0.011;0.452	B;B	0.36567	0.008;0.228	T	0.22977	-1.0201	8	0.51188	T	0.08	.	2.9966	0.06000	0.0:0.2459:0.3112:0.4429	.	197;149	P15621;F8W7T7	ZNF44_HUMAN;.	V	197;197;149;149	ENSP00000377008:G197V;ENSP00000348419:G197V;ENSP00000347910:G149V	ENSP00000347910:G149V	G	-	2	0	ZNF44	12245624	0.001000	0.12720	0.013000	0.15412	0.036000	0.12997	-0.090000	0.11163	-0.102000	0.12197	0.205000	0.17691	GGC		0.428	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264	
ZNF563	147837	broad.mit.edu	37	19	12429507	12429507	+	Silent	SNP	C	C	T	rs74729257	byFrequency	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:12429507C>T	ENST00000293725.5	-	4	1537	c.1332G>A	c.(1330-1332)acG>acA	p.T444T		NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	444					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.T444T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCCCATCTCCCGTATGCATTA	0.423													C|||	8	0.00159744	0.0	0.0	5008	,	,		20305	0.0079		0.0	False		,,,				2504	0.0				p.T444T	GBM(39;623 795 5132 29510 31476)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1332A	19						.						183.0	170.0	174.0					19																	12429507		2203	4300	6503	12290507	SO:0001819	synonymous_variant	147837	exon4			BC022523	CCDS12270.1	19p13.2	2013-09-20			ENSG00000188868	ENSG00000188868		"""Zinc fingers, C2H2-type"", ""-"""	30498	protein-coding gene	gene with protein product							Standard	NM_145276		Approved	FLJ34797	uc002mtp.3	Q8TA94	OTTHUMG00000156413	ENST00000293725.5:c.1332G>A	19.37:g.12429507C>T		Somatic		Capture	Illumina HiSeq	Phase_I	12290507	NM_145276	B2R9E7|Q8NAT7	Silent	SNP	ENST00000293725.5	37	CCDS12270.1																																																																																				0.423	ZNF563-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344114.1	NM_145276	
CXCL17	284340	broad.mit.edu	37	19	42937973	42937973	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:42937973A>T	ENST00000601181.1	-	2	330	c.115T>A	c.(115-117)Tct>Act	p.S39T	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA	NM_198477.1	NP_940879.1	Q6UXB2	VCC1_HUMAN	chemokine (C-X-C motif) ligand 17	39					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)	extracellular region (GO:0005576)		p.S39T(1)		large_intestine(2)|skin(1)	3		Prostate(69;0.00899)				CATCTCCTAGAAGCCTGGCCT	0.557											OREG0025504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S39T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T115A	19						.						128.0	111.0	117.0					19																	42937973		2203	4300	6503	47629813	SO:0001583	missense	284340	exon2				CCDS12608.1	19q13.2	2007-10-15				ENSG00000189377			19232	protein-coding gene	gene with protein product		611387				17201934	Standard	NM_198477		Approved	Dcip1, UNQ473, DMC, VCC1	uc002otu.3	Q6UXB2		ENST00000601181.1:c.115T>A	19.37:g.42937973A>T	ENSP00000472467:p.Ser39Thr	Somatic	912	Capture	Illumina HiSeq	Phase_I	47629813	NM_198477	A8KAC0	Missense_Mutation	SNP	ENST00000601181.1	37	CCDS12608.1	.	.	.	.	.	.	.	.	.	.	A	5.639	0.302488	0.10678	.	.	ENSG00000189377	ENST00000341918	.	.	.	4.7	-0.0582	0.13798	.	0.315207	0.23327	N	0.049387	T	0.18087	0.0434	N	0.24115	0.695	0.09310	N	1	B	0.30281	0.275	B	0.33042	0.157	T	0.17501	-1.0367	9	0.15499	T	0.54	-1.9451	3.9483	0.09358	0.4951:0.1881:0.3167:0.0	.	39	Q6UXB2	VCC1_HUMAN	T	39	.	ENSP00000345317:S39T	S	-	1	0	CXCL17	47629813	0.756000	0.28383	0.003000	0.11579	0.063000	0.16089	0.167000	0.16602	0.085000	0.17107	0.443000	0.29094	TCT		0.557	CXCL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463872.1		
PSG6	5675	broad.mit.edu	37	19	43411114	43411114	+	Silent	SNP	A	A	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:43411114A>C	ENST00000292125.2	-	5	1244	c.1200T>G	c.(1198-1200)acT>acG	p.T400T	PSG6_ENST00000402603.4_Silent_p.T307T|PSG6_ENST00000187910.2_Silent_p.T400T	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	400	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.T400T(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)				TTTCCTTGCCAGTGGCTGAGT	0.443																																					p.T400T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1200G	19						.						191.0	198.0	196.0					19																	43411114		2201	4299	6500	48102954	SO:0001819	synonymous_variant	5675	exon5				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.1200T>G	19.37:g.43411114A>C		Somatic		Capture	Illumina HiSeq	Phase_I	48102954	NM_001031850	O75244|Q15224|Q15235|Q549K1	Silent	SNP	ENST00000292125.2	37	CCDS12613.1																																																																																				0.443	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782	
ZNF234	10780	broad.mit.edu	37	19	44660681	44660681	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:44660681C>G	ENST00000426739.2	+	6	770	c.512C>G	c.(511-513)tCa>tGa	p.S171*	ZNF234_ENST00000592437.1_Nonsense_Mutation_p.S171*	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	171					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.S171*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				CAGTTACACTCAGGAGAGAAG	0.378																																					p.S171X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C512G	19						.						112.0	115.0	114.0					19																	44660681		2202	4300	6502	49352521	SO:0001587	stop_gained	10780	exon6			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.512C>G	19.37:g.44660681C>G	ENSP00000400878:p.Ser171*	Somatic		Capture	Illumina HiSeq	Phase_I	49352521	NM_006630	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Nonsense_Mutation	SNP	ENST00000426739.2	37	CCDS46101.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477108	0.84640	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	.	.	.	4.19	1.21	0.21127	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	1.6343	0.02739	0.1563:0.4786:0.1535:0.2116	.	.	.	.	X	171;2	.	ENSP00000400878:S171X	S	+	2	0	ZNF226	49352521	0.001000	0.12720	0.000000	0.03702	0.033000	0.12548	1.289000	0.33307	0.202000	0.20498	0.586000	0.80456	TCA		0.378	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2		
PNMAL2	57469	broad.mit.edu	37	19	46997340	46997340	+	Intron	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:46997340C>T	ENST00000377655.2	-	1	734				AC011484.1_ENST00000377652.3_5'Flank|PNMAL2_ENST00000599531.1_Silent_p.A461A|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TCATCACCTCCGCCATGTCCT	0.637																																					p.A461A												.	.	0			c.G1383A	19						.						65.0	72.0	70.0					19																	46997340		1941	4129	6070	51689180	SO:0001627	intron_variant	57469	exon1			AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.734+648G>A	19.37:g.46997340C>T		Somatic		Capture	Illumina HiSeq	Phase_I	51689180	NM_020709	C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Silent	SNP	ENST00000377655.2	37																																																																																					0.637	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709	
SIGLEC12	89858	broad.mit.edu	37	19	52002735	52002735	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:52002735C>T	ENST00000291707.3	-	3	1099	c.1044G>A	c.(1042-1044)ggG>ggA	p.G348G	SIGLEC12_ENST00000598614.1_Silent_p.G230G	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	348	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G348G(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCACGCCGGCCCCAGGCAAGG	0.617																																					p.G230G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G690A	19						.						58.0	51.0	54.0					19																	52002735		2203	4300	6503	56694547	SO:0001819	synonymous_variant	89858	exon2			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""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"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1044G>A	19.37:g.52002735C>T		Somatic		Capture	Illumina HiSeq	Phase_I	56694547	NM_033329	Q8IYH7	Silent	SNP	ENST00000291707.3	37	CCDS12833.1																																																																																				0.617	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
C3	718	broad.mit.edu	37	19	6697724	6697724	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:6697724C>T	ENST00000245907.6	-	20	2614	c.2522G>A	c.(2521-2523)cGa>cAa	p.R841Q		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	841					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.R841Q(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)	CTGCTCGTTTCGAACAACAGA	0.572																																					p.R841Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2522A	19						.						48.0	45.0	46.0					19																	6697724		2203	4300	6503	6648724	SO:0001583	missense	718	exon20			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.2522G>A	19.37:g.6697724C>T	ENSP00000245907:p.Arg841Gln	Somatic		Capture	Illumina HiSeq	Phase_I	6648724	NM_000064	A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035368	0.54896	.	.	ENSG00000125730	ENST00000245907	T	0.29142	1.58	5.96	3.81	0.43845	Alpha-2-macroglobulin (1);	0.222293	0.41500	D	0.000864	T	0.57519	0.2059	M	0.87758	2.905	0.29563	N	0.85045	D	0.89917	1.0	D	0.91635	0.999	T	0.60073	-0.7334	10	0.66056	D	0.02	.	10.239	0.43301	0.1364:0.7924:0.0:0.0712	.	841	P01024	CO3_HUMAN	Q	841	ENSP00000245907:R841Q	ENSP00000245907:R841Q	R	-	2	0	C3	6648724	1.000000	0.71417	0.048000	0.18961	0.023000	0.10783	5.316000	0.65815	0.829000	0.34733	-0.142000	0.14014	CGA		0.572	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064	
MUC16	94025	broad.mit.edu	37	19	9046101	9046101	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:9046101A>G	ENST00000397910.4	-	5	35733	c.35530T>C	c.(35530-35532)Tct>Cct	p.S11844P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11846	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.S11844P(1)|p.S7477P(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						GTTTTTGCAGAAACACCAGGT	0.473																																					p.S11844P												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T35530C	19						.						72.0	70.0	71.0					19																	9046101		1955	4170	6125	8907101	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.35530T>C	19.37:g.9046101A>G	ENSP00000381008:p.Ser11844Pro	Somatic		Capture	Illumina HiSeq	Phase_I	8907101	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	A	8.319	0.823815	0.16678	.	.	ENSG00000181143	ENST00000397910	T	0.02158	4.42	3.14	-1.62	0.08372	.	.	.	.	.	T	0.01695	0.0054	N	0.24115	0.695	.	.	.	B	0.10296	0.003	B	0.11329	0.006	T	0.43814	-0.9368	8	0.87932	D	0	.	3.5965	0.08008	0.5098:0.0:0.3042:0.1859	.	11844	B5ME49	.	P	11844	ENSP00000381008:S11844P	ENSP00000381008:S11844P	S	-	1	0	MUC16	8907101	0.000000	0.05858	0.003000	0.11579	0.171000	0.22731	-0.490000	0.06482	-0.237000	0.09739	0.254000	0.18369	TCT		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
NLRP5	126206	broad.mit.edu	37	19	56539387	56539387	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:56539387C>T	ENST00000390649.3	+	7	1788	c.1788C>T	c.(1786-1788)taC>taT	p.Y596Y		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	596	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.Y596Y(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)		CCTTGTACTACGTGTTAGAGG	0.517																																					p.Y596Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1788T	19						.						65.0	65.0	65.0					19																	56539387		2007	4185	6192	61231199	SO:0001819	synonymous_variant	126206	exon7			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.1788C>T	19.37:g.56539387C>T		Somatic		Capture	Illumina HiSeq	Phase_I	61231199	NM_153447	A8MTY4|Q86W29	Silent	SNP	ENST00000390649.3	37	CCDS12938.1																																																																																				0.517	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ZSCAN18	65982	broad.mit.edu	37	19	58596167	58596167	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr19:58596167delC	ENST00000240727.6	-	7	1817	c.1418delG	c.(1417-1419)ggcfs	p.G473fs	ZSCAN18_ENST00000421612.2_Frame_Shift_Del_p.G337fs|ZSCAN18_ENST00000600404.1_Frame_Shift_Del_p.G529fs|ZSCAN18_ENST00000601144.1_Frame_Shift_Del_p.G473fs	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	473					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.G473fs*>38(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GCCCCGGGCGCCCCCCAGCGC	0.721																																					p.G529fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1586delG	19						.		,,,	18,4130		6,6,2062	16.0	16.0	16.0		,,,	-4.7	0.0	19		16	39,8043		8,23,4010	no	frameshift,frameshift,frameshift,frameshift	ZSCAN18	NM_023926.4,NM_001145544.1,NM_001145543.1,NM_001145542.1	,,,	14,29,6072	A1A1,A1R,RR		0.4826,0.4339,0.4661	,,,	,,,	58596167	57,12173	2163	4237	6400	63287979	SO:0001589	frameshift_variant	65982	exon7			AY280799, AY279352	CCDS12971.1, CCDS46214.1, CCDS46215.1	19q13.43	2013-01-09	2007-02-20	2007-02-20		ENSG00000121413		"""-"", ""Zinc fingers, C2H2-type"""	21037	protein-coding gene	gene with protein product			"""zinc finger protein 447"""	ZNF447			Standard	NM_001145542		Approved	FLJ12895	uc010yht.1	Q8TBC5		ENST00000240727.6:c.1418delG	19.37:g.58596167delC	ENSP00000240727:p.Gly473fs	Somatic		Capture	Illumina HiSeq	Phase_I	63287979	NM_001145542	B4DG23|E9PBI0|Q9BRK7|Q9H9A0	Frame_Shift_Del	DEL	ENST00000240727.6	37	CCDS12971.1																																																																																				0.721	ZSCAN18-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466706.1	NM_023926	
ZNF281	23528	broad.mit.edu	37	1	200378558	200378559	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:200378558_200378559insG	ENST00000294740.3	-	2	399_400	c.275_276insC	c.(274-276)cctfs	p.P92fs	ZNF281_ENST00000367352.3_Frame_Shift_Ins_p.P56fs|ZNF281_ENST00000367353.1_Frame_Shift_Ins_p.P92fs	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	92	Poly-Pro.				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.P93fs*34(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGGCTGGCGGAGGGGGGGGCTC	0.703																																					p.P92fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.276_277insC	1						.																																			198645182	SO:0001589	frameshift_variant	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.276dupC	1.37:g.200378566_200378566dupG	ENSP00000294740:p.Pro92fs	Somatic		Capture	Illumina HiSeq	Phase_I	198645181	NM_012482	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Frame_Shift_Ins	INS	ENST00000294740.3	37	CCDS1402.1																																																																																				0.703	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482	
CHIA	27159	broad.mit.edu	37	1	111857218	111857218	+	Splice_Site	SNP	C	C	T	rs201556508		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:111857218C>T	ENST00000369740.1	+	5	417	c.314C>T	c.(313-315)cCt>cTt	p.P105L	CHIA_ENST00000343320.6_Splice_Site_p.P105L|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_5'UTR|CHIA_ENST00000430615.1_5'UTR|CHIA_ENST00000353665.6_5'UTR	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	105					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.P105H(1)|p.P105L(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)		GGGACTGCCCCGTAAGTCTTC	0.448																																					p.P105L												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.C314T	1						.						106.0	103.0	104.0					1																	111857218		1875	4109	5984	111658741	SO:0001630	splice_region_variant	27159	exon5			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.314+1C>T	1.37:g.111857218C>T		Somatic		Capture	Illumina HiSeq	Phase_I	111658741	NM_201653	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	ENST00000369740.1	37	CCDS41368.1	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281917	0.23392	.	.	ENSG00000134216	ENST00000422815;ENST00000369740;ENST00000343320	T;T;T	0.05649	3.41;3.41;3.41	4.56	-1.15	0.09709	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.687162	0.12992	N	0.422413	T	0.01800	0.0057	L	0.50847	1.595	0.80722	D	1	P	0.38504	0.634	B	0.30105	0.111	T	0.53034	-0.8495	10	0.46703	T	0.11	-1.1577	5.4223	0.16407	0.0:0.4802:0.269:0.2508	.	105	Q9BZP6	CHIA_HUMAN	L	49;105;105	ENSP00000387671:P49L;ENSP00000358755:P105L;ENSP00000341828:P105L	ENSP00000341828:P105L	P	+	2	0	CHIA	111658741	0.009000	0.17119	0.970000	0.41538	0.323000	0.28346	0.082000	0.14847	-0.095000	0.12351	-0.369000	0.07265	CCT		0.448	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030710.1		Missense_Mutation
SYT6	148281	broad.mit.edu	37	1	114646299	114646299	+	Silent	SNP	C	C	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:114646299C>G	ENST00000610222.1	-	4	1262	c.1116G>C	c.(1114-1116)ctG>ctC	p.L372L	SYT6_ENST00000607941.1_Silent_p.L287L|SYT6_ENST00000393296.1_Silent_p.L372L|SYT6_ENST00000609117.1_Silent_p.L287L|SYT6_ENST00000369547.1_Silent_p.L287L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	372	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				acrosomal vesicle exocytosis (GO:0060478)	cell junction (GO:0030054)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	clathrin binding (GO:0030276)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)|transporter activity (GO:0005215)	p.L287L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-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)		CTGCAGTGGGCAGGTAGCAAA	0.547																																					p.L287L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G861C	1						.						129.0	94.0	106.0					1																	114646299		2203	4300	6503	114447822	SO:0001819	synonymous_variant	148281	exon4				CCDS871.1	1p13.1	2013-01-21			ENSG00000134207	ENSG00000134207		"""Synaptotagmins"""	18638	protein-coding gene	gene with protein product		607718				11543631	Standard	NM_205848		Approved		uc021orz.1	Q5T7P8	OTTHUMG00000011755	ENST00000610222.1:c.1116G>C	1.37:g.114646299C>G		Somatic		Capture	Illumina HiSeq	Phase_I	114447822	NM_205848	B1AMB8|B3KPK1	Silent	SNP	ENST00000610222.1	37																																																																																					0.547	SYT6-004	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000314819.2	NM_205848	
FLG2	388698	broad.mit.edu	37	1	152329384	152329384	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:152329384T>C	ENST00000388718.5	-	3	950	c.878A>G	c.(877-879)aAt>aGt	p.N293S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	293	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.N293S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTTGAAGCATTTTGTGGCCT	0.458																																					p.N293S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A878G	1						.						205.0	191.0	196.0					1																	152329384		2203	4300	6503	150596008	SO:0001583	missense	388698	exon3			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.878A>G	1.37:g.152329384T>C	ENSP00000373370:p.Asn293Ser	Somatic		Capture	Illumina HiSeq	Phase_I	150596008	NM_001014342	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	7.037	0.561801	0.13498	.	.	ENSG00000143520	ENST00000388718	T	0.00717	5.79	5.47	1.81	0.25067	.	.	.	.	.	T	0.00300	0.0009	L	0.44542	1.39	0.19775	N	0.99996	B	0.28082	0.2	B	0.28385	0.089	T	0.36407	-0.9749	9	0.19590	T	0.45	-19.5655	6.1183	0.20139	0.0:0.082:0.3129:0.6051	.	293	Q5D862	FILA2_HUMAN	S	293	ENSP00000373370:N293S	ENSP00000373370:N293S	N	-	2	0	FLG2	150596008	0.010000	0.17322	0.924000	0.36721	0.041000	0.13682	-0.215000	0.09279	0.108000	0.17862	-0.429000	0.05907	AAT		0.458	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
PGLYRP4	57115	broad.mit.edu	37	1	153314148	153314148	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:153314148C>T	ENST00000359650.5	-	6	644	c.580G>A	c.(580-582)Ggc>Agc	p.G194S	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.G190S	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	194					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.G194S(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)			CAGTTCTCGCCTTTCCCAAGA	0.567																																					p.G194S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G580A	1						.						118.0	112.0	114.0					1																	153314148		2203	4300	6503	151580772	SO:0001583	missense	57115	exon6			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.580G>A	1.37:g.153314148C>T	ENSP00000352672:p.Gly194Ser	Somatic		Capture	Illumina HiSeq	Phase_I	151580772	NM_020393	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	37	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	0.115	-1.133269	0.01756	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.04406	3.63;3.63	4.2	0.969	0.19686	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.864290	0.09891	N	0.742432	T	0.00754	0.0025	N	0.16903	0.455	0.21950	N	0.999458	B;B	0.21688	0.048;0.059	B;B	0.22152	0.034;0.038	T	0.47071	-0.9145	10	0.08837	T	0.75	-22.5145	5.0837	0.14671	0.0:0.5614:0.0:0.4386	.	190;194	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	S	190;194	ENSP00000357728:G190S;ENSP00000352672:G194S	ENSP00000352672:G194S	G	-	1	0	PGLYRP4	151580772	0.435000	0.25577	0.872000	0.34217	0.149000	0.21700	0.518000	0.22847	0.389000	0.25086	-0.218000	0.12543	GGC		0.567	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	
DENND4B	9909	broad.mit.edu	37	1	153909981	153909981	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:153909981G>A	ENST00000361217.4	-	15	2633	c.2215C>T	c.(2215-2217)Cct>Tct	p.P739S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	739					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)			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)			GTACGGCGAGGAGCAGGACTG	0.597																																					p.P739S												.	.	0			c.C2215T	1						.						22.0	25.0	24.0					1																	153909981		1932	4126	6058	152176605	SO:0001583	missense	9909	exon15			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.2215C>T	1.37:g.153909981G>A	ENSP00000354597:p.Pro739Ser	None		Capture	Illumina HiSeq	Phase_I	152176605	NM_014856	Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.125820	0.56721	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.07327	3.2;3.2	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.12774	0.0310	L	0.51422	1.61	0.58432	D	0.999995	D	0.76494	0.999	D	0.64144	0.922	T	0.07927	-1.0747	10	0.28530	T	0.3	-11.0785	16.3429	0.83101	0.0:0.0:1.0:0.0	.	739	O75064	DEN4B_HUMAN	S	739;750	ENSP00000354597:P739S;ENSP00000357635:P750S	ENSP00000354597:P739S	P	-	1	0	DENND4B	152176605	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	6.909000	0.75735	2.366000	0.80165	0.563000	0.77884	CCT		0.597	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
CD1E	913	broad.mit.edu	37	1	158323782	158323782	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:158323782C>A	ENST00000368167.3	+	1	243	c.4C>A	c.(4-6)Ctg>Atg	p.L2M	CD1E_ENST00000368161.3_Missense_Mutation_p.L2M|CD1E_ENST00000368157.1_Missense_Mutation_p.L2M|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000368164.3_Missense_Mutation_p.L2M|CD1E_ENST00000444681.2_Missense_Mutation_p.L2M|CD1E_ENST00000368154.1_Missense_Mutation_p.L2M|CD1E_ENST00000368166.3_Missense_Mutation_p.L2M|CD1E_ENST00000368160.3_Missense_Mutation_p.L2M|CD1E_ENST00000368155.3_Missense_Mutation_p.L2M|CD1E_ENST00000368156.1_Missense_Mutation_p.L2M|CD1E_ENST00000368163.3_Missense_Mutation_p.L2M|CD1E_ENST00000368165.3_Missense_Mutation_p.L2M|CD1E_ENST00000452291.2_Missense_Mutation_p.L2M	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	2					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.L2M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					AGCTTCAATGCTGCTCCTGTT	0.512																																					p.L2M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C4A	1						.						97.0	94.0	95.0					1																	158323782		1956	4153	6109	156590406	SO:0001583	missense	913	exon1			AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.4C>A	1.37:g.158323782C>A	ENSP00000357149:p.Leu2Met	Somatic		Capture	Illumina HiSeq	Phase_I	156590406	NM_001185107	B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	C	10.34	1.323851	0.24080	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368164;ENST00000368157;ENST00000368160;ENST00000368161;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T;T;T	0.59083	4.76;4.23;2.88;3.11;3.13;3.24;0.29;0.44;4.3;3.62;3.32;3.23;0.41	3.42	1.4	0.22301	.	0.911085	0.08916	N	0.875193	T	0.58395	0.2119	M	0.78637	2.42	0.09310	N	0.999999	D;D;D;D;D;D;B;D;D;D;D;D;D;D	0.76494	0.994;0.968;0.968;0.997;0.997;0.997;0.35;0.99;0.994;0.997;0.997;0.999;0.997;0.997	P;P;P;D;D;P;B;P;P;D;D;D;P;D	0.67382	0.84;0.574;0.574;0.923;0.923;0.873;0.024;0.873;0.84;0.923;0.923;0.951;0.873;0.923	T	0.42050	-0.9474	10	0.72032	D	0.01	-11.6709	4.5137	0.11924	0.0:0.6393:0.231:0.1297	.	2;2;2;2;2;2;2;2;2;2;2;2;2;2	B4E057;B4E042;E7EP01;P15812-5;P15812-7;P15812-9;P15812-10;P15812-2;P15812;P15812-3;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;.;.;.;CD1E_HUMAN;.;.;.;.;.	M	2	ENSP00000402906:L2M;ENSP00000357149:L2M;ENSP00000416228:L2M;ENSP00000357147:L2M;ENSP00000357148:L2M;ENSP00000357145:L2M;ENSP00000357146:L2M;ENSP00000357139:L2M;ENSP00000357142:L2M;ENSP00000357143:L2M;ENSP00000357138:L2M;ENSP00000357137:L2M;ENSP00000357136:L2M	ENSP00000357136:L2M	L	+	1	2	CD1E	156590406	0.983000	0.35010	0.991000	0.47740	0.492000	0.33523	0.015000	0.13355	0.386000	0.24997	0.563000	0.77884	CTG		0.512	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893	
OR10K1	391109	broad.mit.edu	37	1	158435479	158435479	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:158435479C>A	ENST00000289451.2	+	1	208	c.128C>A	c.(127-129)gCa>gAa	p.A43E		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A43E(1)		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)					GGCACCAATGCAATCATCATT	0.502																																					p.A43E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C128A	1						.						182.0	152.0	162.0					1																	158435479		2203	4300	6503	156702103	SO:0001583	missense	391109	exon1			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.128C>A	1.37:g.158435479C>A	ENSP00000289451:p.Ala43Glu	Somatic		Capture	Illumina HiSeq	Phase_I	156702103	NM_001004473	Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	c	15.56	2.868283	0.51588	.	.	ENSG00000173285	ENST00000289451	T	0.00958	5.5	4.6	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.169215	0.27891	N	0.017427	T	0.00967	0.0032	M	0.71871	2.18	0.19300	N	0.999974	D	0.60160	0.987	P	0.54965	0.765	T	0.51132	-0.8744	10	0.39692	T	0.17	.	4.5174	0.11943	0.0:0.6208:0.1973:0.1819	.	43	Q8NGX5	O10K1_HUMAN	E	43	ENSP00000289451:A43E	ENSP00000289451:A43E	A	+	2	0	OR10K1	156702103	0.000000	0.05858	0.997000	0.53966	0.626000	0.37791	0.359000	0.20233	1.091000	0.41335	0.557000	0.71058	GCA		0.502	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1		
OR6N1	128372	broad.mit.edu	37	1	158736301	158736301	+	Missense_Mutation	SNP	G	G	A	rs376841145		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:158736301G>A	ENST00000335094.2	-	1	191	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P58S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGGTACATGGGTGTGTGAAGC	0.483																																					p.P58S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C172T	1						.						98.0	95.0	96.0					1																	158736301		2203	4300	6503	157002925	SO:0001583	missense	128372	exon1			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.172C>T	1.37:g.158736301G>A	ENSP00000335535:p.Pro58Ser	Somatic		Capture	Illumina HiSeq	Phase_I	157002925	NM_001005185	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776550	0.70107	.	.	ENSG00000197403	ENST00000335094	T	0.02015	4.5	5.1	5.1	0.69264	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000322	T	0.13286	0.0322	M	0.92317	3.295	0.52099	D	0.999946	D	0.89917	1.0	D	0.87578	0.998	T	0.01635	-1.1307	10	0.87932	D	0	-28.4592	17.4367	0.87554	0.0:0.0:1.0:0.0	.	58	Q8NGY5	OR6N1_HUMAN	S	58	ENSP00000335535:P58S	ENSP00000335535:P58S	P	-	1	0	OR6N1	157002925	1.000000	0.71417	0.999000	0.59377	0.512000	0.34134	7.570000	0.82390	2.623000	0.88846	0.655000	0.94253	CCC		0.483	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1	NM_001005185	
PYHIN1	149628	broad.mit.edu	37	1	158906758	158906758	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:158906758T>C	ENST00000368140.1	+	2	303	c.58T>C	c.(58-60)Tat>Cat	p.Y20H	PYHIN1_ENST00000392254.2_Missense_Mutation_p.Y20H|PYHIN1_ENST00000392252.3_Missense_Mutation_p.Y20H|PYHIN1_ENST00000368138.3_Missense_Mutation_p.Y20H|PYHIN1_ENST00000368135.4_Missense_Mutation_p.Y20H	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	20	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell cycle (GO:0007049)	nucleus (GO:0005634)		p.Y20H(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)					CATCAATGATTATCATTTTAG	0.303																																					p.Y20H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T58C	1						.						54.0	57.0	56.0					1																	158906758		2203	4298	6501	157173382	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.58T>C	1.37:g.158906758T>C	ENSP00000357122:p.Tyr20His	Somatic		Capture	Illumina HiSeq	Phase_I	157173382	NM_198930	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.340923	0.24339	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	2.83	-4.3	0.03710	Pyrin (2);	.	.	.	.	T	0.23492	0.0568	N	0.24115	0.695	0.09310	N	1	P;P;P;P;D	0.76494	0.839;0.652;0.839;0.867;0.999	P;P;P;P;D	0.83275	0.615;0.498;0.747;0.836;0.996	T	0.07158	-1.0787	9	0.23891	T	0.37	.	1.1152	0.01713	0.1843:0.1292:0.3744:0.3121	.	20;20;20;20;20	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	H	20	ENSP00000407616:Y20H;ENSP00000357122:Y20H;ENSP00000357120:Y20H;ENSP00000376083:Y20H;ENSP00000376082:Y20H;ENSP00000357117:Y20H	ENSP00000357117:Y20H	Y	+	1	0	PYHIN1	157173382	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.236000	0.02925	-0.549000	0.06191	-0.461000	0.05368	TAT		0.303	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501	
APOBEC4	403314	broad.mit.edu	37	1	183616901	183616901	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:183616901C>T	ENST00000308641.4	-	2	1287	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	RGL1_ENST00000304685.4_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_5'UTR	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	339					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						CACTGACCTTCCAGTGGGAAG	0.423																																					p.G339E												.	.	0			c.G1016A	1						.						142.0	143.0	143.0					1																	183616901		2203	4300	6503	181883524	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.1016G>A	1.37:g.183616901C>T	ENSP00000310622:p.Gly339Glu	None		Capture	Illumina HiSeq	Phase_I	181883524	NM_203454	Q8N7F6	Missense_Mutation	SNP	ENST00000308641.4	37	CCDS1358.1	.	.	.	.	.	.	.	.	.	.	C	1.582	-0.531297	0.04112	.	.	ENSG00000173627	ENST00000308641	T	0.14893	2.47	5.15	-0.0851	0.13687	.	0.419256	0.18985	N	0.125779	T	0.09730	0.0239	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22382	-1.0218	10	0.48119	T	0.1	0.0472	1.8593	0.03185	0.1248:0.3784:0.274:0.2228	.	339	Q8WW27	ABEC4_HUMAN	E	339	ENSP00000310622:G339E	ENSP00000310622:G339E	G	-	2	0	APOBEC4	181883524	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.042000	0.12063	-0.306000	0.08818	-0.137000	0.14449	GGA		0.423	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454	
LAMB3	3914	broad.mit.edu	37	1	209805959	209805959	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:209805959C>T	ENST00000356082.4	-	8	925	c.791G>A	c.(790-792)gGg>gAg	p.G264E	LAMB3_ENST00000367030.3_Missense_Mutation_p.G264E|LAMB3_ENST00000391911.1_Missense_Mutation_p.G264E	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	264	Laminin EGF-like 1. {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.G264E(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)		TGCAGAGGCCCCAGGCTTGGG	0.652																																					p.G264E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G791A	1						.						34.0	39.0	37.0					1																	209805959		2203	4300	6503	207872582	SO:0001583	missense	3914	exon7			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.791G>A	1.37:g.209805959C>T	ENSP00000348384:p.Gly264Glu	Somatic		Capture	Illumina HiSeq	Phase_I	207872582	NM_001017402	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022355	0.54683	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.38722	1.12;1.12;1.12	4.59	3.63	0.41609	EGF-like, laminin (3);	0.763821	0.12494	N	0.463931	T	0.36853	0.0982	L	0.31578	0.945	0.21719	N	0.999579	P;P	0.36683	0.473;0.565	B;B	0.40825	0.138;0.341	T	0.22730	-1.0208	10	0.44086	T	0.13	.	12.8515	0.57860	0.0:0.6862:0.3138:0.0	.	264;264	B4DL55;Q13751	.;LAMB3_HUMAN	E	264	ENSP00000375778:G264E;ENSP00000348384:G264E;ENSP00000355997:G264E	ENSP00000348384:G264E	G	-	2	0	LAMB3	207872582	0.058000	0.20735	0.325000	0.25375	0.051000	0.14879	2.027000	0.41078	1.229000	0.43630	0.555000	0.69702	GGG		0.652	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
LAMB3	3914	broad.mit.edu	37	1	209807881	209807881	+	Missense_Mutation	SNP	G	G	A	rs116472735		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:209807881G>A	ENST00000356082.4	-	6	609	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	LAMB3_ENST00000367030.3_Missense_Mutation_p.R159W|LAMB3_ENST00000391911.1_Missense_Mutation_p.R159W	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	159	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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.R159W(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)		TGGCGGACCCGAGGGAAGGTG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		18153	0.001		0.0	False		,,,				2504	0.0				p.R159W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C475T	1						.	G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	63.0	56.0	59.0		475,475,475	-1.0	0.0	1	dbSNP_132	59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	159/1173,159/1173,159/1173	209807881	1,13005	2203	4300	6503	207874504	SO:0001583	missense	3914	exon5			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.475C>T	1.37:g.209807881G>A	ENSP00000348384:p.Arg159Trp	Somatic		Capture	Illumina HiSeq	Phase_I	207874504	NM_001017402	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	CCDS1487.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	10.18	1.280250	0.23392	0.0	1.16E-4	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000415782	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	4.57	-1.01	0.10169	Laminin, N-terminal (3);	0.654702	0.15569	N	0.255563	T	0.61664	0.2365	N	0.25485	0.75	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.44483	-0.9325	10	0.36615	T	0.2	.	2.8382	0.05521	0.1422:0.1219:0.4847:0.2512	.	159	Q13751	LAMB3_HUMAN	W	159	ENSP00000375778:R159W;ENSP00000348384:R159W;ENSP00000355997:R159W;ENSP00000388960:R159W	ENSP00000348384:R159W	R	-	1	2	LAMB3	207874504	0.001000	0.12720	0.021000	0.16686	0.389000	0.30415	0.993000	0.29680	-0.361000	0.08125	-0.320000	0.08662	CGG		0.637	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
TMEM57	55219	broad.mit.edu	37	1	25773329	25773329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:25773329G>T	ENST00000374343.4	+	2	336	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	TMEM57_ENST00000399766.3_Nonsense_Mutation_p.E53*|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	53					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)		p.E53*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCAGATTTGAATACCTGTG	0.408																																					p.E53X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G157T	1						.						133.0	129.0	130.0					1																	25773329		2203	4300	6503	25645916	SO:0001587	stop_gained	55219	exon2			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.157G>T	1.37:g.25773329G>T	ENSP00000363463:p.Glu53*	Somatic		Capture	Illumina HiSeq	Phase_I	25645916	NM_018202	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Nonsense_Mutation	SNP	ENST00000374343.4	37	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	G	38	7.203624	0.98132	.	.	ENSG00000204178	ENST00000399766;ENST00000374343	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.9934	19.3504	0.94381	0.0:0.0:1.0:0.0	.	.	.	.	X	53	.	ENSP00000363463:E53X	E	+	1	0	TMEM57	25645916	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.420000	0.97426	2.885000	0.99019	0.655000	0.94253	GAA		0.408	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202	
EFCAB14	9813	broad.mit.edu	37	1	47154025	47154025	+	Splice_Site	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:47154025C>T	ENST00000371933.3	-	7	1963	c.987G>A	c.(985-987)atG>atA	p.M329I	EFCAB14-AS1_ENST00000442839.1_RNA|EFCAB14_ENST00000544071.1_Intron|EFCAB14_ENST00000484461.1_5'UTR|EFCAB14-AS1_ENST00000418985.1_RNA	NM_014774.2	NP_055589.1	O75071	EFC14_HUMAN	EF-hand calcium binding domain 14	329							calcium ion binding (GO:0005509)	p.M329I(1)									AAAGGCTTACCATGCTGAAGG	0.428																																					p.M329I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G987A	1						.						273.0	228.0	243.0					1																	47154025		2203	4300	6503	46926612	SO:0001630	splice_region_variant	9813	exon7			AB007963	CCDS30706.1	1p33	2013-01-10	2012-11-29	2012-11-29	ENSG00000159658	ENSG00000159658		"""EF-hand domain containing"""	29051	protein-coding gene	gene with protein product			"""KIAA0494"""	KIAA0494		9455484	Standard	NM_014774		Approved		uc001cqk.4	O75071	OTTHUMG00000007992	ENST00000371933.3:c.987+1G>A	1.37:g.47154025C>T		Somatic		Capture	Illumina HiSeq	Phase_I	46926612	NM_014774	D3DQ23|Q5SXB8	Missense_Mutation	SNP	ENST00000371933.3	37	CCDS30706.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428373	0.25726	.	.	ENSG00000159658	ENST00000371933	D	0.93906	-3.31	5.3	4.38	0.52667	.	1.146860	0.05961	N	0.640606	D	0.90528	0.7032	L	0.36672	1.1	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.72734	-0.4204	9	.	.	.	-22.3775	14.4342	0.67270	0.0:0.8531:0.1469:0.0	.	329	O75071	K0494_HUMAN	I	329	ENSP00000361001:M329I	.	M	-	3	0	KIAA0494	46926612	0.992000	0.36948	0.929000	0.37066	0.850000	0.48378	3.206000	0.51098	1.445000	0.47624	0.561000	0.74099	ATG		0.428	EFCAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021931.1	NM_014774	Missense_Mutation
HFM1	164045	broad.mit.edu	37	1	91846539	91846539	+	Splice_Site	SNP	G	G	A	rs146051438		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:91846539G>A	ENST00000370425.3	-	7	901	c.803C>T	c.(802-804)cCg>cTg	p.P268L	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	268					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.P268L(2)		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)		AAATTTTGCCGCTTACAATAA	0.214													G|||	1	0.000199681	0.0	0.0	5008	,	,		15524	0.0		0.0	False		,,,				2504	0.001				p.P268L												.	.	2	Substitution - Missense(2)	large_intestine(1)|prostate(1)	c.C803T	1						.	G	LEU/PRO	1,4387	2.1+/-5.4	0,1,2193	53.0	63.0	59.0		803	5.8	1.0	1	dbSNP_134	59	2,8586	1.2+/-3.3	0,2,4292	no	missense-near-splice	HFM1	NM_001017975.3	98	0,3,6485	AA,AG,GG		0.0233,0.0228,0.0231	probably-damaging	268/1436	91846539	3,12973	2194	4294	6488	91619127	SO:0001630	splice_region_variant	164045	exon7			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.803-1C>T	1.37:g.91846539G>A		Somatic		Capture	Illumina HiSeq	Phase_I	91619127	NM_001017975	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	G	31	5.060525	0.93846	2.28E-4	2.33E-4	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.63255	-0.03	5.81	5.81	0.92471	.	0.168281	0.22016	U	0.065785	T	0.71986	0.3405	L	0.52573	1.65	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.69824	0.918;0.966	T	0.73190	-0.4061	10	0.87932	D	0	.	20.0782	0.97758	0.0:0.0:1.0:0.0	.	268;268	B7ZM16;A2PYH4	.;HFM1_HUMAN	L	268;301;127	ENSP00000359454:P268L	ENSP00000359454:P268L	P	-	2	0	HFM1	91619127	1.000000	0.71417	0.995000	0.50966	0.984000	0.73092	9.229000	0.95273	2.746000	0.94184	0.655000	0.94253	CCG		0.214	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	Missense_Mutation
WDR26	80232	broad.mit.edu	37	1	224599260	224599260	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:224599260A>T	ENST00000414423.2	-	7	1220	c.1027T>A	c.(1027-1029)Ttc>Atc	p.F343I	WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.F196I	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	343						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.F196I(1)|p.F343I(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TAACATGGGAACTGCCTCCTA	0.333																																					p.F343I												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.T1027A	1						.						113.0	104.0	107.0					1																	224599260		2203	4300	6503	222665883	SO:0001583	missense	80232	exon7			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.1027T>A	1.37:g.224599260A>T	ENSP00000408108:p.Phe343Ile	Somatic		Capture	Illumina HiSeq	Phase_I	222665883	NM_025160	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153854	0.78114	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	T;T	0.80824	-1.42;-1.42	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	L	0.31120	0.905	0.80722	D	1	P	0.46952	0.887	P	0.52217	0.693	T	0.76653	-0.2880	10	0.25751	T	0.34	.	15.7371	0.77853	1.0:0.0:0.0:0.0	.	327	Q9H7D7-2	.	I	343;196	ENSP00000408108:F343I;ENSP00000295024:F196I	ENSP00000295024:F196I	F	-	1	0	WDR26	222665883	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.287000	0.95975	2.177000	0.69029	0.460000	0.39030	TTC		0.333	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160	
ADCK3	56997	broad.mit.edu	37	1	227152752	227152752	+	Frame_Shift_Del	DEL	G	G	-			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr1:227152752delG	ENST00000366779.1	+	8	3000	c.229delG	c.(229-231)gggfs	p.G77fs	ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000433743.2_5'Flank|ADCK3_ENST00000366778.1_Frame_Shift_Del_p.G25fs|ADCK3_ENST00000366777.3_Frame_Shift_Del_p.G77fs|ADCK3_ENST00000478406.1_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	77					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CGGCCCAGAAGGGGAGTTCCA	0.592																																					p.G77fs												.	.	0			c.229delG	1						.						51.0	59.0	56.0					1																	227152752		2203	4300	6503	225219375	SO:0001589	frameshift_variant	56997	exon3			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.229delG	1.37:g.227152752delG	ENSP00000355741:p.Gly77fs	None		Capture	Illumina HiSeq	Phase_I	225219375	NM_020247	Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Frame_Shift_Del	DEL	ENST00000366779.1	37	CCDS1557.1																																																																																				0.592	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1	NM_020247	
PANK2	80025	broad.mit.edu	37	20	3893258	3893258	+	Silent	SNP	G	G	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr20:3893258G>C	ENST00000316562.4	+	4	1395	c.1389G>C	c.(1387-1389)ctG>ctC	p.L463L	PANK2_ENST00000610179.1_Silent_p.L340L|PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000497424.1_Silent_p.L172L	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	463					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.L463L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGTTTGGACTGCCAGGCTGGG	0.493																																					p.L463L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1389C	20						.						83.0	90.0	88.0					20																	3893258		2203	4300	6503	3841258	SO:0001819	synonymous_variant	80025	exon4			AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1389G>C	20.37:g.3893258G>C		Somatic		Capture	Illumina HiSeq	Phase_I	3841258	NM_153638	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	ENST00000316562.4	37	CCDS13071.2																																																																																				0.493	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960	
BPIFB4	149954	broad.mit.edu	37	20	31677339	31677339	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr20:31677339C>T	ENST00000375483.3	+	7	1026	c.1026C>T	c.(1024-1026)gtC>gtT	p.V342V		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	342						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.V303V(1)									TGGGTCTTGTCAATGACCAGC	0.587																																					p.V342V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1026T	20						.						154.0	115.0	128.0					20																	31677339		2203	4300	6503	31141000	SO:0001819	synonymous_variant	149954	exon7			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1026C>T	20.37:g.31677339C>T		Somatic		Capture	Illumina HiSeq	Phase_I	31141000	NM_182519	Q5TDX6	Silent	SNP	ENST00000375483.3	37	CCDS13213.2																																																																																				0.587	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519	
JPH2	57158	broad.mit.edu	37	20	42788653	42788653	+	Silent	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr20:42788653G>A	ENST00000372980.3	-	2	1646	c.774C>T	c.(772-774)agC>agT	p.S258S		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	258					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|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.S258S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACGCGGCGTCGCTGGCGCCCG	0.716																																					p.S258S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C774T	20						.						11.0	13.0	12.0					20																	42788653		2155	4188	6343	42222067	SO:0001819	synonymous_variant	57158	exon2			AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.774C>T	20.37:g.42788653G>A		Somatic		Capture	Illumina HiSeq	Phase_I	42222067	NM_020433	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																				0.716	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080307.1		
NCAM2	4685	broad.mit.edu	37	21	22656658	22656658	+	Missense_Mutation	SNP	G	G	A	rs370033455		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr21:22656658G>A	ENST00000400546.1	+	3	524	c.275G>A	c.(274-276)cGt>cAt	p.R92H	NCAM2_ENST00000535285.1_Missense_Mutation_p.R117H|NCAM2_ENST00000486367.1_3'UTR|NCAM2_ENST00000284894.7_Intron	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	92	Ig-like C2-type 1.				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.R92H(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)		GGGATATATCGTTGTCAAGCA	0.348																																					p.R92H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G275A	21						.	G	HIS/ARG	0,3744		0,0,1872	89.0	83.0	85.0		275	5.6	1.0	21	dbSNP_134	85	1,8207		0,1,4103	no	missense	NCAM2	NM_004540.3	29	0,1,5975	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	92/838	22656658	1,11951	1872	4104	5976	21578529	SO:0001583	missense	4685	exon3				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.275G>A	21.37:g.22656658G>A	ENSP00000383392:p.Arg92His	Somatic		Capture	Illumina HiSeq	Phase_I	21578529	NM_004540	A8MQ06|B7Z841|Q7Z7F2	Missense_Mutation	SNP	ENST00000400546.1	37	CCDS42910.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.608100	0.87258	0.0	1.22E-4	ENSG00000154654	ENST00000400546;ENST00000535285	T;T	0.28255	1.62;1.62	5.58	5.58	0.84498	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.54029	-0.8354	10	0.72032	D	0.01	-12.539	18.134	0.89612	0.0:0.0:1.0:0.0	.	117;92	B7Z841;O15394	.;NCAM2_HUMAN	H	92;117	ENSP00000383392:R92H;ENSP00000441887:R117H	ENSP00000383392:R92H	R	+	2	0	NCAM2	21578529	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.003000	0.57061	2.632000	0.89209	0.591000	0.81541	CGT		0.348	NCAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000170915.1	NM_004540	
DSCAM	1826	broad.mit.edu	37	21	42080539	42080539	+	Missense_Mutation	SNP	C	C	T	rs367690354		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr21:42080539C>T	ENST00000400454.1	-	2	679	c.202G>A	c.(202-204)Gat>Aat	p.D68N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	68	Ig-like C2-type 1.				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.D68N(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)				CCGGGGACATCGTAGATCTCC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		17078	0.0		0.001	False		,,,				2504	0.0				p.D68N	Melanoma(134;970 1778 1785 21664 32388)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G202A	21						.						88.0	91.0	90.0					21																	42080539		1987	4169	6156	41002409	SO:0001583	missense	1826	exon2			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.202G>A	21.37:g.42080539C>T	ENSP00000383303:p.Asp68Asn	Somatic		Capture	Illumina HiSeq	Phase_I	41002409	NM_001389	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525853	0.64860	.	.	ENSG00000171587	ENST00000400454	T	0.38722	1.12	5.1	5.1	0.69264	Immunoglobulin-like fold (1);	0.062087	0.64402	D	0.000005	T	0.35480	0.0933	L	0.37897	1.145	0.41738	D	0.989594	B	0.21452	0.056	B	0.16722	0.016	T	0.09574	-1.0668	10	0.29301	T	0.29	.	17.0669	0.86561	0.0:1.0:0.0:0.0	.	68	O60469	DSCAM_HUMAN	N	68	ENSP00000383303:D68N	ENSP00000383303:D68N	D	-	1	0	DSCAM	41002409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.411000	0.66386	2.547000	0.85894	0.585000	0.79938	GAT		0.562	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389	
GGT1	2678	broad.mit.edu	37	22	25010758	25010758	+	Silent	SNP	C	C	T	rs191957455		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr22:25010758C>T	ENST00000400382.1	+	6	935	c.180C>T	c.(178-180)gaC>gaT	p.D60D	GGT1_ENST00000248923.4_Silent_p.D60D|GGT1_ENST00000400383.1_Silent_p.D60D|GGT1_ENST00000400380.1_Silent_p.D60D|GGT1_ENST00000406383.2_Silent_p.D60D			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	60					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.D60D(1)		breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CACTGCGGGACGGTGGCTCTG	0.622																																					p.D60D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C180T	22						.	C	,,,	1,4073		0,1,2036	41.0	46.0	44.0		180,180,180,180	-7.5	0.4	22		44	1,8369		0,1,4184	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GGT1	NM_001032364.2,NM_001032365.2,NM_005265.2,NM_013430.2	,,,	0,2,6220	TT,TC,CC		0.0119,0.0245,0.0161	,,,	60/570,60/570,60/570,60/570	25010758	2,12442	2037	4185	6222	23340758	SO:0001819	synonymous_variant	2678	exon6			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.180C>T	22.37:g.25010758C>T		Somatic		Capture	Illumina HiSeq	Phase_I	23340758	NM_013430	Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	ENST00000400382.1	37	CCDS42992.1																																																																																				0.622	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430	
SGSM1	129049	broad.mit.edu	37	22	25289497	25289497	+	Missense_Mutation	SNP	G	G	A	rs372769247		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr22:25289497G>A	ENST00000400359.4	+	18	2042	c.2035G>A	c.(2035-2037)Gcc>Acc	p.A679T	SGSM1_ENST00000400358.4_Missense_Mutation_p.A624T	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	679	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.A624T(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						CCATGCGGCCGCCCTGGCCAA	0.647																																					p.A624T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1870A	22						.	G	THR/ALA,THR/ALA,,	0,4008		0,0,2004	21.0	25.0	23.0		2035,1870,,	4.9	0.9	22		23	1,8331		0,1,4165	no	missense,missense,intron,intron	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	58,58,,	0,1,6169	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging,,	679/1149,624/1094,,	25289497	1,12339	2004	4166	6170	23619497	SO:0001583	missense	129049	exon17			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.2035G>A	22.37:g.25289497G>A	ENSP00000383212:p.Ala679Thr	Somatic		Capture	Illumina HiSeq	Phase_I	23619497	NM_001098497	A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.993793	0.54041	0.0	1.2E-4	ENSG00000167037	ENST00000400358;ENST00000400359	T;T	0.08193	3.14;3.12	4.88	4.88	0.63580	Rab-GAP/TBC domain (2);	0.000000	0.85682	D	0.000000	T	0.17109	0.0411	N	0.25890	0.77	0.80722	D	1	D;P	0.76494	0.999;0.871	D;B	0.80764	0.994;0.14	T	0.14090	-1.0485	10	0.21540	T	0.41	-13.8581	17.4236	0.87521	0.0:0.0:1.0:0.0	.	624;679	Q2NKQ1-4;Q2NKQ1	.;SGSM1_HUMAN	T	624;679	ENSP00000383211:A624T;ENSP00000383212:A679T	ENSP00000383211:A624T	A	+	1	0	SGSM1	23619497	1.000000	0.71417	0.945000	0.38365	0.980000	0.70556	9.101000	0.94219	2.424000	0.82194	0.591000	0.81541	GCC		0.647	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318	
TBC1D10A	83874	broad.mit.edu	37	22	30688485	30688485	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr22:30688485A>C	ENST00000215790.7	-	9	1570	c.1406T>G	c.(1405-1407)gTg>gGg	p.V469G	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.V381G|GATSL3_ENST00000404953.3_5'Flank|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.V476G|GATSL3_ENST00000407689.3_5'Flank|RP1-130H16.18_ENST00000447976.1_Intron	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	469					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)	p.V469G(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CTTCGGGGGCACATGCTGTGG	0.637																																					p.V469G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1406G	22						.						78.0	85.0	83.0					22																	30688485		2203	4300	6503	29018485	SO:0001583	missense	83874	exon9			AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.1406T>G	22.37:g.30688485A>C	ENSP00000215790:p.Val469Gly	Somatic		Capture	Illumina HiSeq	Phase_I	29018485	NM_031937	B3KXT8|O76053|Q20WK7|Q543A2	Missense_Mutation	SNP	ENST00000215790.7	37	CCDS13874.1	.	.	.	.	.	.	.	.	.	.	A	0.254	-1.004624	0.02112	.	.	ENSG00000099992	ENST00000215790;ENST00000403477;ENST00000403362	T;T;T	0.05319	3.46;3.46;3.47	4.45	-1.37	0.09056	.	1.374170	0.04732	N	0.421266	T	0.06050	0.0157	L	0.44542	1.39	0.09310	N	0.999999	B;B;B	0.12013	0.0;0.005;0.0	B;B;B	0.14023	0.0;0.01;0.0	T	0.44081	-0.9351	10	0.20519	T	0.43	.	5.0036	0.14277	0.4642:0.2269:0.3089:0.0	.	469;476;469	Q20WK7;B3KXT8;Q9BXI6	.;.;TB10A_HUMAN	G	469;476;381	ENSP00000215790:V469G;ENSP00000384996:V476G;ENSP00000385050:V381G	ENSP00000215790:V469G	V	-	2	0	TBC1D10A	29018485	0.000000	0.05858	0.000000	0.03702	0.250000	0.25880	-0.130000	0.10498	-0.073000	0.12842	0.459000	0.35465	GTG		0.637	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937	
ADSL	158	broad.mit.edu	37	22	40760320	40760320	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr22:40760320C>T	ENST00000216194.7	+	11	1198	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	ADSL_ENST00000342312.6_Missense_Mutation_p.A381V|ADSL_ENST00000454266.2_Missense_Mutation_p.A395V	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	381					'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.A381V(2)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CCTTTCATGGCCACAGAGAAC	0.478																																					p.A381V	Colon(4;65 130 1097 1516)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1142T	22						.						98.0	83.0	88.0					22																	40760320		2203	4300	6503	39090266	SO:0001583	missense	158	exon11			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.1142C>T	22.37:g.40760320C>T	ENSP00000216194:p.Ala381Val	Somatic		Capture	Illumina HiSeq	Phase_I	39090266	NM_000026	B0QY76|O75495|Q5TI34	Missense_Mutation	SNP	ENST00000216194.7	37	CCDS14001.1	.	.	.	.	.	.	.	.	.	.	C	35	5.413066	0.96072	.	.	ENSG00000239900	ENST00000216194;ENST00000454266;ENST00000537028;ENST00000342312	D;D;D	0.95412	-3.7;-3.7;-3.51	5.47	5.47	0.80525	Adenylosuccinate lyase C-terminal metazoa/fungi (1);L-Aspartase-like (1);	0.049725	0.85682	D	0.000000	D	0.98134	0.9384	H	0.94423	3.535	0.80722	D	1	P;D;B;B	0.54772	0.494;0.968;0.319;0.319	B;P;B;B	0.57283	0.34;0.817;0.081;0.081	D	0.99000	1.0811	10	0.72032	D	0.01	-8.7276	19.3831	0.94545	0.0:1.0:0.0:0.0	.	395;381;381;381	E7ERF4;P30566-2;Q71UA4;P30566	.;.;.;PUR8_HUMAN	V	381;395;201;381	ENSP00000216194:A381V;ENSP00000390107:A395V;ENSP00000341429:A381V	ENSP00000216194:A381V	A	+	2	0	ADSL	39090266	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.128000	0.77217	2.569000	0.86673	0.650000	0.86243	GCC		0.478	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026	
PDCL3	79031	broad.mit.edu	37	2	101186042	101186042	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:101186042G>A	ENST00000264254.6	+	4	605	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	76					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|protein folding (GO:0006457)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|viral process (GO:0016032)	cytoplasm (GO:0005737)	protein binding involved in protein folding (GO:0044183)	p.R76Q(1)		endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TTGTGCAGACGGCGGAGACTG	0.418																																					p.R76Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G227A	2						.						67.0	70.0	69.0					2																	101186042		2203	4300	6503	100552474	SO:0001583	missense	79031	exon4			AF267853	CCDS33261.1	2q12	2008-02-05			ENSG00000115539	ENSG00000115539			28860	protein-coding gene	gene with protein product		611678					Standard	NM_024065		Approved	VIAF1	uc002tao.2	Q9H2J4	OTTHUMG00000153141	ENST00000264254.6:c.227G>A	2.37:g.101186042G>A	ENSP00000264254:p.Arg76Gln	Somatic		Capture	Illumina HiSeq	Phase_I	100552474	NM_024065	B2RA00|Q53S68	Missense_Mutation	SNP	ENST00000264254.6	37	CCDS33261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	3.763|3.763	-0.049195|-0.049195	0.07407|0.07407	.|.	.|.	ENSG00000115539|ENSG00000115539	ENST00000450127|ENST00000264254;ENST00000416255	.|T;T	.|0.13901	.|2.55;2.55	4.46|4.46	3.31|3.31	0.37934|0.37934	.|Thioredoxin-like fold (1);Phosducin, thioredoxin-like domain (1);	.|0.119122	.|0.64402	.|N	.|0.000020	T|T	0.03827|0.03827	0.0108|0.0108	N|N	0.01289|0.01289	-0.905|-0.905	0.36214|0.36214	D|D	0.851532|0.851532	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.32903|0.32903	-0.9889|-0.9889	5|10	.|0.07644	.|T	.|0.81	-20.8057|-20.8057	9.3962|9.3962	0.38404|0.38404	0.912:0.0:0.088:0.0|0.912:0.0:0.088:0.0	.|.	.|76	.|Q9H2J4	.|PDCL3_HUMAN	S|Q	24|76;26	.|ENSP00000264254:R76Q;ENSP00000413936:R26Q	.|ENSP00000264254:R76Q	G|R	+|+	1|2	0|0	PDCL3|PDCL3	100552474|100552474	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.524000|0.524000	0.34500|0.34500	5.928000|5.928000	0.70088|0.70088	0.671000|0.671000	0.31185|0.31185	-0.391000|-0.391000	0.06502|0.06502	GGC|CGG		0.418	PDCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329734.1	NM_024065	
FAP	2191	broad.mit.edu	37	2	163072487	163072487	+	Missense_Mutation	SNP	G	G	A	rs373219307		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:163072487G>A	ENST00000188790.4	-	10	994	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	FAP_ENST00000443424.1_Missense_Mutation_p.R238W	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha									p.R263W(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ATAAATATCCGAACAACGGGA	0.398																																					p.R263W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C787T	2						.	G	TRP/ARG	0,4406		0,0,2203	75.0	75.0	75.0		787	4.7	1.0	2		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAP	NM_004460.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	263/761	163072487	1,13005	2203	4300	6503	162780733	SO:0001583	missense	2191	exon10			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.787C>T	2.37:g.163072487G>A	ENSP00000188790:p.Arg263Trp	Somatic		Capture	Illumina HiSeq	Phase_I	162780733	NM_004460		Missense_Mutation	SNP	ENST00000188790.4	37	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351315	0.82132	0.0	1.16E-4	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.32515	1.45;1.45	5.63	4.68	0.58851	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.127442	0.56097	D	0.000024	T	0.48677	0.1513	M	0.63843	1.955	0.44899	D	0.997912	D;D;D	0.76494	0.991;0.999;0.999	D;D;D	0.67382	0.925;0.928;0.951	T	0.46938	-0.9155	10	0.72032	D	0.01	-9.8977	11.0785	0.48047	0.0:0.0:0.6107:0.3893	.	238;263;263	B4DLR2;B2RD89;Q12884	.;.;SEPR_HUMAN	W	263;238	ENSP00000188790:R263W;ENSP00000411391:R238W	ENSP00000188790:R263W	R	-	1	2	FAP	162780733	1.000000	0.71417	0.997000	0.53966	0.978000	0.69477	4.451000	0.60047	2.665000	0.90641	0.655000	0.94253	CGG		0.398	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		
FIGN	55137	broad.mit.edu	37	2	164467888	164467888	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:164467888G>C	ENST00000333129.3	-	3	768	c.454C>G	c.(454-456)Cct>Gct	p.P152A	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	152					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)	p.P152A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GCTACCCCAGGAGAGCTTCCT	0.512																																					p.P152A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C454G	2						.						85.0	83.0	83.0					2																	164467888		1955	4157	6112	164176134	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.454C>G	2.37:g.164467888G>C	ENSP00000333836:p.Pro152Ala	Somatic		Capture	Illumina HiSeq	Phase_I	164176134	NM_018086	B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	G	14.51	2.556738	0.45487	.	.	ENSG00000182263	ENST00000333129	T	0.22945	1.93	6.07	6.07	0.98685	.	0.054340	0.85682	D	0.000000	T	0.22589	0.0545	L	0.35723	1.085	0.58432	D	0.999999	P	0.37061	0.58	B	0.32090	0.14	T	0.02156	-1.1204	10	0.20519	T	0.43	-29.1019	20.6593	0.99626	0.0:0.0:1.0:0.0	.	152	Q5HY92	FIGN_HUMAN	A	152	ENSP00000333836:P152A	ENSP00000333836:P152A	P	-	1	0	FIGN	164176134	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.608000	0.74168	2.885000	0.99019	0.655000	0.94253	CCT		0.512	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086	
LRP2	4036	broad.mit.edu	37	2	170139457	170139457	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:170139457G>A	ENST00000263816.3	-	10	1382	c.1097C>T	c.(1096-1098)cCt>cTt	p.P366L	LRP2_ENST00000443831.1_Missense_Mutation_p.P366L	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	366	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)			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)"""	GTGACGGCCAGGTCGGCTTTC	0.438																																					p.P366L												.	.	0			c.C1097T	2						.						165.0	161.0	162.0					2																	170139457		2203	4300	6503	169847703	SO:0001583	missense	4036	exon10				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.1097C>T	2.37:g.170139457G>A	ENSP00000263816:p.Pro366Leu	None		Capture	Illumina HiSeq	Phase_I	169847703	NM_004525	O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	2.220	-0.378627	0.05000	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	D;D	0.86865	-2.18;-2.18	5.36	-6.62	0.01813	Epidermal growth factor-like (1);	3.532330	0.01396	N	0.013432	T	0.75671	0.3881	L	0.33624	1.015	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.12837	0.008;0.002	T	0.60234	-0.7303	9	.	.	.	.	1.6245	0.02720	0.3334:0.1069:0.1274:0.4324	.	366;366	E9PC35;P98164	.;LRP2_HUMAN	L	366	ENSP00000263816:P366L;ENSP00000409813:P366L	.	P	-	2	0	LRP2	169847703	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.605000	0.24179	-1.604000	0.01595	-1.261000	0.01458	CCT		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
KIAA1715	80856	broad.mit.edu	37	2	176835527	176835527	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:176835527C>T	ENST00000272748.4	-	6	569	c.322G>A	c.(322-324)Gca>Aca	p.A108T	KIAA1715_ENST00000544803.1_Missense_Mutation_p.A108T|KIAA1715_ENST00000535310.1_Missense_Mutation_p.A33T	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	108					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.A108T(1)		endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TCATCCAATGCTTCATCTAGA	0.239																																					p.A108T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G322A	2						.						11.0	13.0	12.0					2																	176835527		2058	4183	6241	176543773	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.322G>A	2.37:g.176835527C>T	ENSP00000272748:p.Ala108Thr	Somatic		Capture	Illumina HiSeq	Phase_I	176543773	NM_030650	B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709525	0.68730	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000544803;ENST00000535310;ENST00000392540	.	.	.	4.96	4.96	0.65561	.	0.096519	0.64402	D	0.000001	T	0.56601	0.1996	L	0.45581	1.43	0.36773	D	0.88389	P;P;P;P	0.41524	0.625;0.568;0.63;0.753	B;B;B;B	0.42827	0.399;0.251;0.224;0.333	T	0.68750	-0.5326	9	0.87932	D	0	-6.233	16.0512	0.80763	0.0:1.0:0.0:0.0	.	110;108;105;108	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	T	108;110;108;33;103	.	ENSP00000272748:A108T	A	-	1	0	KIAA1715	176543773	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.503000	0.53340	2.450000	0.82876	0.591000	0.81541	GCA		0.239	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834	
TTN	7273	broad.mit.edu	37	2	179659911	179659911	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:179659911C>T	ENST00000591111.1	-	7	1207	c.983G>A	c.(982-984)cGt>cAt	p.R328H	TTN_ENST00000460472.2_Missense_Mutation_p.R328H|TTN_ENST00000359218.5_Missense_Mutation_p.R328H|TTN_ENST00000360870.5_Missense_Mutation_p.R328H|TTN_ENST00000342992.6_Missense_Mutation_p.R328H|TTN_ENST00000589042.1_Missense_Mutation_p.R328H|TTN_ENST00000342175.6_Missense_Mutation_p.R328H			Q8WZ42	TITIN_HUMAN	titin	0	ZIS1.		R -> C (in dbSNP:rs16866538). {ECO:0000269|PubMed:11846417, ECO:0000269|PubMed:17344846}.		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.R328H(10)		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)			CTGAGTCTTACGCATGAGCAA	0.552																																					p.R328H												.	.	10	Substitution - Missense(10)	large_intestine(10)	c.G983A	2						.						104.0	95.0	98.0					2																	179659911		2203	4300	6503	179368156	SO:0001583	missense	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.983G>A	2.37:g.179659911C>T	ENSP00000465570:p.Arg328His	Somatic		Capture	Illumina HiSeq	Phase_I	179368156	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		.	.	.	.	.	.	.	.	.	.	C	13.21	2.169654	0.38315	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.72725	-0.68;-0.31;-0.36;-0.37;-0.33	6.17	6.17	0.99709	.	.	.	.	.	T	0.78742	0.4331	L	0.29908	0.895	0.39535	D	0.968721	D;D;D;D;D	0.89917	0.996;0.996;0.996;0.998;1.0	P;P;P;P;D	0.69824	0.72;0.72;0.72;0.72;0.966	T	0.79957	-0.1584	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	328;328;328;328;328	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	328	ENSP00000343764:R328H;ENSP00000434586:R328H;ENSP00000340554:R328H;ENSP00000352154:R328H;ENSP00000354117:R328H	ENSP00000340554:R328H	R	-	2	0	TTN	179368156	1.000000	0.71417	0.108000	0.21378	0.035000	0.12851	7.224000	0.78042	2.941000	0.99782	0.655000	0.94253	CGT		0.552	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
COL5A2	1290	broad.mit.edu	37	2	189899823	189899823	+	Missense_Mutation	SNP	C	C	G	rs150931608		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:189899823C>G	ENST00000374866.3	-	53	4446	c.4172G>C	c.(4171-4173)cGc>cCc	p.R1391P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1391	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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.R1391P(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)			TGATAAAAGGCGCAAAAAAGT	0.398																																					p.R1391P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4172C	2						.						105.0	103.0	103.0					2																	189899823		2203	4300	6503	189608068	SO:0001583	missense	1290	exon53			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.4172G>C	2.37:g.189899823C>G	ENSP00000364000:p.Arg1391Pro	Somatic		Capture	Illumina HiSeq	Phase_I	189608068	NM_000393	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227943	0.79576	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	T	0.78481	-1.18	5.66	5.66	0.87406	Fibrillar collagen, C-terminal (4);	0.000000	0.49305	D	0.000155	D	0.91085	0.7194	H	0.94503	3.545	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.89353	0.3662	10	0.16420	T	0.52	.	19.7297	0.96177	0.0:1.0:0.0:0.0	.	1031;1391	Q5PR22;P05997	.;CO5A2_HUMAN	P	1391;1031	ENSP00000364000:R1391P	ENSP00000364000:R1391P	R	-	2	0	COL5A2	189608068	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.818000	0.86416	2.658000	0.90341	0.650000	0.86243	CGC		0.398	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
TNS1	7145	broad.mit.edu	37	2	218762619	218762619	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:218762619C>A	ENST00000171887.4	-	6	522	c.70G>T	c.(70-72)Gct>Tct	p.A24S	TNS1_ENST00000310858.6_Missense_Mutation_p.A55S|TNS1_ENST00000419504.1_Missense_Mutation_p.A24S|TNS1_ENST00000430930.1_Missense_Mutation_p.A24S	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	24	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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.A24S(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)		AAGGAGACAGCGATGATCCTC	0.577																																					p.A24S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G70T	2						.						179.0	135.0	150.0					2																	218762619		2203	4300	6503	218470864	SO:0001583	missense	7145	exon6			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.70G>T	2.37:g.218762619C>A	ENSP00000171887:p.Ala24Ser	Somatic		Capture	Illumina HiSeq	Phase_I	218470864	NM_022648	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452098	0.43531	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903;ENST00000413554;ENST00000310858;ENST00000413280;ENST00000439083;ENST00000423413;ENST00000449814	D;D;D;D;D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-5.3;-4.92	5.42	4.49	0.54785	Phosphatase tensin type (1);	0.111433	0.64402	D	0.000009	D	0.96664	0.8911	L	0.33624	1.015	0.42704	D	0.99362	B;B;B;B;B;B	0.29162	0.052;0.053;0.235;0.132;0.052;0.052	B;B;B;B;B;B	0.28991	0.023;0.034;0.097;0.048;0.023;0.023	D	0.95388	0.8479	10	0.20519	T	0.43	.	14.8439	0.70246	0.2182:0.7818:0.0:0.0	.	24;78;55;24;24;24	B2RU35;A1L0S7;Q6IPI5;Q9HBL0;E9PGF5;E9PF55	.;.;.;TENS1_HUMAN;.;.	S	24;24;24;149;92;55;24;24;89;24	ENSP00000171887:A24S;ENSP00000408724:A24S;ENSP00000406016:A24S;ENSP00000405460:A149S;ENSP00000400383:A92S;ENSP00000308321:A55S;ENSP00000395615:A24S;ENSP00000404477:A24S;ENSP00000411349:A89S	ENSP00000171887:A24S	A	-	1	0	TNS1	218470864	1.000000	0.71417	0.987000	0.45799	0.760000	0.43138	4.177000	0.58276	2.819000	0.97034	0.655000	0.94253	GCT		0.577	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
KIF1A	547	broad.mit.edu	37	2	241702209	241702209	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:241702209C>T	ENST00000320389.7	-	22	2174	c.2016G>A	c.(2014-2016)gaG>gaA	p.E672E	KIF1A_ENST00000498729.2_Silent_p.E681E	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	672					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.E672E(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TCTGCAGAGCCTCCAGCTTGC	0.617																																					p.E672E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2016A	2						.						40.0	43.0	42.0					2																	241702209		2092	4216	6308	241350882	SO:0001819	synonymous_variant	547	exon22			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2016G>A	2.37:g.241702209C>T		Somatic		Capture	Illumina HiSeq	Phase_I	241350882	NM_004321	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	CCDS46561.1																																																																																				0.617	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
RSAD2	91543	broad.mit.edu	37	2	7035913	7035913	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:7035913G>A	ENST00000382040.3	+	6	1062	c.926G>A	c.(925-927)cGc>cAc	p.R309H	RSAD2_ENST00000541728.1_Missense_Mutation_p.R202H	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.R309H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TTCTAGATGCGCTTTCTGAAC	0.368																																					p.R309H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G926A	2						.						71.0	70.0	70.0					2																	7035913		2203	4300	6503	6953364	SO:0001583	missense	91543	exon6			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.926G>A	2.37:g.7035913G>A	ENSP00000371471:p.Arg309His	Somatic		Capture	Illumina HiSeq	Phase_I	6953364	NM_080657		Missense_Mutation	SNP	ENST00000382040.3	37	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241298	0.95272	.	.	ENSG00000134321	ENST00000382040;ENST00000541728	D;D	0.92048	-2.96;-2.96	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.96815	0.8960	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.97008	0.9734	10	0.87932	D	0	-34.6299	19.912	0.97027	0.0:0.0:1.0:0.0	.	309	Q8WXG1	RSAD2_HUMAN	H	309;202	ENSP00000371471:R309H;ENSP00000440859:R202H	ENSP00000371471:R309H	R	+	2	0	RSAD2	6953364	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	9.302000	0.96175	2.791000	0.96007	0.655000	0.94253	CGC		0.368	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657	
HADHA	3030	broad.mit.edu	37	2	26459754	26459754	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:26459754G>A	ENST00000380649.3	-	4	412	c.283C>T	c.(283-285)Cca>Tca	p.P95S	HADHA_ENST00000461025.1_5'Flank|HADHA_ENST00000457468.2_Intron	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	95					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.P95S(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)					AAGCAGCCTGGCTTTGATGAG	0.368																																					p.P95S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C283T	2						.						98.0	95.0	96.0					2																	26459754		2203	4300	6503	26313258	SO:0001583	missense	3030	exon4			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.283C>T	2.37:g.26459754G>A	ENSP00000370023:p.Pro95Ser	Somatic		Capture	Illumina HiSeq	Phase_I	26313258	NM_000182	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000380649.3	37	CCDS1721.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929751	0.92389	.	.	ENSG00000084754	ENST00000380649	T	0.69175	-0.38	5.78	5.78	0.91487	Crotonase, core (1);	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	M	0.74546	2.27	0.80722	D	1	D	0.61697	0.99	P	0.57283	0.817	T	0.81052	-0.1107	10	0.72032	D	0.01	.	17.4925	0.87708	0.0:0.0:1.0:0.0	.	95	P40939	ECHA_HUMAN	S	95	ENSP00000370023:P95S	ENSP00000370023:P95S	P	-	1	0	HADHA	26313258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.350000	0.97070	2.738000	0.93877	0.591000	0.81541	CCA		0.368	HADHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214051.1	NM_000182	
C2orf71	388939	broad.mit.edu	37	2	29293508	29293508	+	Missense_Mutation	SNP	G	G	T	rs372010073		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:29293508G>T	ENST00000331664.5	-	1	3619	c.3620C>A	c.(3619-3621)aCc>aAc	p.T1207N		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1207					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.T1207N(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGGTCCAAGGTGGGAGGCTG	0.622																																					p.T1207N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C3620A	2						.	G	ASN/THR	0,4082		0,0,2041	46.0	52.0	50.0		3620	-10.5	0.0	2		50	1,8377		0,1,4188	no	missense	C2orf71	NM_001029883.1	65	0,1,6229	TT,TG,GG		0.0119,0.0,0.0080	benign	1207/1289	29293508	1,12459	2041	4189	6230	29147012	SO:0001583	missense	388939	exon1				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3620C>A	2.37:g.29293508G>T	ENSP00000332809:p.Thr1207Asn	Somatic		Capture	Illumina HiSeq	Phase_I	29147012	NM_001029883		Missense_Mutation	SNP	ENST00000331664.5	37	CCDS42669.1	.	.	.	.	.	.	.	.	.	.	G	3.134	-0.177850	0.06380	0.0	1.19E-4	ENSG00000179270	ENST00000331664	T	0.17854	2.25	5.27	-10.5	0.00291	.	5.167670	0.00357	N	0.000022	T	0.08626	0.0214	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09662	-1.0664	10	0.22109	T	0.4	7.19	9.7672	0.40567	0.1611:0.3163:0.4653:0.0573	.	1207	A6NGG8	CB071_HUMAN	N	1207	ENSP00000332809:T1207N	ENSP00000332809:T1207N	T	-	2	0	C2orf71	29147012	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.253000	0.02877	-2.981000	0.00283	-3.947000	0.00015	ACC		0.622	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
BIRC6	57448	broad.mit.edu	37	2	32658781	32658781	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:32658781C>T	ENST00000421745.2	+	13	3452	c.3318C>T	c.(3316-3318)ttC>ttT	p.F1106F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1106					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.F1078F(1)|p.F1106F(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)					ATGTGGACTTCAAATTCGTTT	0.363																																					p.F1106F	Pancreas(94;175 1509 16028 18060 45422)											.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3318T	2						.						117.0	106.0	110.0					2																	32658781		2203	4300	6503	32512285	SO:0001819	synonymous_variant	57448	exon13			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.3318C>T	2.37:g.32658781C>T		Somatic		Capture	Illumina HiSeq	Phase_I	32512285	NM_016252	Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																				0.363	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
IMMT	10989	broad.mit.edu	37	2	86378447	86378447	+	Silent	SNP	A	A	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:86378447A>G	ENST00000410111.3	-	12	1761	c.1374T>C	c.(1372-1374)agT>agC	p.S458S	IMMT_ENST00000449247.2_Silent_p.S447S|IMMT_ENST00000254636.5_Silent_p.S359S|IMMT_ENST00000409051.2_Silent_p.S411S|IMMT_ENST00000442664.2_Silent_p.S457S	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	458					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.S458S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTGTATTTCACTTCTGTGAT	0.388																																					p.S457S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T1371C	2						.						123.0	107.0	112.0					2																	86378447		1902	4134	6036	86231958	SO:0001819	synonymous_variant	10989	exon12			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.1374T>C	2.37:g.86378447A>G		Somatic		Capture	Illumina HiSeq	Phase_I	86231958	NM_001100169	B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Silent	SNP	ENST00000410111.3	37	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	A	10.20	1.286084	0.23478	.	.	ENSG00000132305	ENST00000419070	.	.	.	5.86	2.34	0.29019	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.918	8.7594	0.34665	0.737:0.0:0.263:0.0	.	.	.	.	R	313	.	.	X	-	1	0	IMMT	86231958	0.803000	0.28956	1.000000	0.80357	0.990000	0.78478	0.805000	0.27112	1.071000	0.40834	0.529000	0.55759	TGA		0.388	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839	
KIF1A	547	broad.mit.edu	37	2	241702685	241702685	+	Missense_Mutation	SNP	G	G	A	rs370071963		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr2:241702685G>A	ENST00000320389.7	-	20	1978	c.1820C>T	c.(1819-1821)aCg>aTg	p.T607M	KIF1A_ENST00000498729.2_Missense_Mutation_p.T616M	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	607					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.T607M(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGCACAAGGCGTGCGCTCACG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		14016	0.0		0.001	False		,,,				2504	0.0				p.T607M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1820T	2						.						23.0	26.0	25.0					2																	241702685		2134	4256	6390	241351358	SO:0001583	missense	547	exon20			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1820C>T	2.37:g.241702685G>A	ENSP00000322791:p.Thr607Met	Somatic		Capture	Illumina HiSeq	Phase_I	241351358	NM_004321	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.704293	0.30232	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.73363	-0.74;-0.74;-0.74	3.93	3.93	0.45458	.	0.055168	0.64402	U	0.000001	T	0.64853	0.2636	L	0.33485	1.01	0.80722	D	1	B;B;B	0.28820	0.04;0.064;0.224	B;B;B	0.25759	0.063;0.03;0.021	T	0.66200	-0.5983	10	0.46703	T	0.11	.	16.3222	0.82954	0.0:0.0:1.0:0.0	.	616;616;607	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	M	607;616;616;616	ENSP00000322791:T607M;ENSP00000438388:T616M;ENSP00000384231:T616M	ENSP00000322791:T607M	T	-	2	0	KIF1A	241351358	1.000000	0.71417	0.994000	0.49952	0.128000	0.20619	7.578000	0.82498	1.915000	0.55452	0.467000	0.42956	ACG		0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483	
SLC41A3	54946	broad.mit.edu	37	3	125786821	125786822	+	In_Frame_Ins	INS	-	-	ACA			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	-	-	-	ACA	-	-	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:125786821_125786822insACA	ENST00000315891.6	-	2	479_480	c.241_242insTGT	c.(241-243)tcc>tTGTcc	p.80_81insL	SLC41A3_ENST00000346785.5_In_Frame_Ins_p.80_81insL|AC117422.1_ENST00000581281.1_RNA|SLC41A3_ENST00000360370.4_In_Frame_Ins_p.80_81insL|SLC41A3_ENST00000508835.1_Intron|SLC41A3_ENST00000514023.1_5'UTR	NM_001008485.1|NM_017836.3	NP_001008485|NP_060306.3	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.L80_S81insL(1)		breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		GCCGGCCCAGGACAGTCCCAGG	0.594																																					p.S81delinsLS												.	.	1	Insertion - In frame(1)	large_intestine(1)	c.242_243insTGT	3						.																																			127269512	SO:0001652	inframe_insertion	54946	exon2				CCDS33842.1, CCDS33843.1, CCDS33844.1, CCDS43144.1, CCDS54635.1	3q21.2	2013-09-02			ENSG00000114544	ENSG00000114544		"""Solute carriers"""	31046	protein-coding gene	gene with protein product		610803					Standard	NM_001164475		Approved	FLJ20473	uc003eij.3	Q96GZ6	OTTHUMG00000162678	ENST00000315891.6:c.239_241dupTGT	3.37:g.125786822_125786824dupACA	ENSP00000326070:p.Leu80_Leu80dup	Somatic		Capture	Illumina HiSeq	Phase_I	127269511	NM_001008485	A6ND60|B3KSD9|B7Z4Y2|C9JE96|E7ENY4|Q8N342|Q8NB27|Q9H9I6|Q9HAB1|Q9NX30	In_Frame_Ins	INS	ENST00000315891.6	37	CCDS33843.1																																																																																				0.594	SLC41A3-024	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370886.1	NM_017836	
SEMA5B	54437	broad.mit.edu	37	3	122642526	122642526	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:122642526G>A	ENST00000357599.3	-	10	1596	c.1210C>T	c.(1210-1212)Cgc>Tgc	p.R404C	SEMA5B_ENST00000195173.4_Missense_Mutation_p.R404C|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R458C	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	404	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R404C(1)|p.R458C(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)		TCCTGGTAGCGAAATGGGCCA	0.557																																					p.R404C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1210T	3						.						104.0	104.0	104.0					3																	122642526		2203	4300	6503	124125216	SO:0001583	missense	54437	exon10			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.1210C>T	3.37:g.122642526G>A	ENSP00000350215:p.Arg404Cys	Somatic		Capture	Illumina HiSeq	Phase_I	124125216	NM_001031702	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541932	0.85917	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	5.22	5.22	0.72569	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.054481	0.85682	D	0.000000	T	0.38134	0.1029	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	P;P;P	0.62382	0.84;0.901;0.901	T	0.13415	-1.0510	10	0.87932	D	0	.	18.3337	0.90280	0.0:0.0:1.0:0.0	.	346;404;404	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	C	404;404;346;458;404	ENSP00000350215:R404C;ENSP00000195173:R404C;ENSP00000389588:R458C;ENSP00000377208:R404C	ENSP00000195173:R404C	R	-	1	0	SEMA5B	124125216	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.255000	0.65462	2.885000	0.99019	0.655000	0.94253	CGC		0.557	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
UBA5	79876	broad.mit.edu	37	3	132390655	132390655	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:132390655C>A	ENST00000356232.4	+	7	1686	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	UBA5_ENST00000494238.2_Missense_Mutation_p.S149Y|UBA5_ENST00000493720.2_Missense_Mutation_p.S205Y|UBA5_ENST00000264991.4_Missense_Mutation_p.S149Y|UBA5_ENST00000473651.1_Missense_Mutation_p.S205Y	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	205					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)	p.S205Y(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGGATGGAATCTGGGGTCAGT	0.338																																					p.S149Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C446A	3						.						161.0	153.0	156.0					3																	132390655		2203	4300	6503	133873345	SO:0001583	missense	79876	exon7			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.614C>A	3.37:g.132390655C>A	ENSP00000348565:p.Ser205Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	133873345	NM_198329	A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	C	32	5.165035	0.94727	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000473651;ENST00000494238	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.83	5.83	0.93111	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80176	-0.1491	10	0.87932	D	0	-19.1467	20.1338	0.98010	0.0:1.0:0.0:0.0	.	205;205	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	Y	149;205;205;205;149	ENSP00000264991:S149Y;ENSP00000348565:S205Y;ENSP00000417879:S205Y;ENSP00000424984:S205Y;ENSP00000418807:S149Y	ENSP00000264991:S149Y	S	+	2	0	UBA5	133873345	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.625000	0.83145	2.770000	0.95276	0.655000	0.94253	TCT		0.338	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2	NM_024818	
SOX2	6657	broad.mit.edu	37	3	181430808	181430808	+	Silent	SNP	G	G	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:181430808G>C	ENST00000325404.1	+	1	1087	c.660G>C	c.(658-660)tcG>tcC	p.S220S	SOX2_ENST00000431565.2_Silent_p.S220S	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	220					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|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)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|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 regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S220S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TGAACGGCTCGCCCACCTACA	0.647			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																														p.S220S			Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G660C	3						.						68.0	58.0	62.0					3																	181430808		2203	4300	6503	182913502	SO:0001819	synonymous_variant	6657	exon1			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.660G>C	3.37:g.181430808G>C		Somatic		Capture	Illumina HiSeq	Phase_I	182913502	NM_003106	Q14537	Silent	SNP	ENST00000325404.1	37	CCDS3239.1																																																																																				0.647	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106	
HTR3E	285242	broad.mit.edu	37	3	183823965	183823965	+	Silent	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:183823965G>A	ENST00000415389.2	+	8	1441	c.975G>A	c.(973-975)gaG>gaA	p.E325E	HTR3E_ENST00000425359.2_Silent_p.E310E|HTR3E_ENST00000436361.2_Silent_p.E325E|HTR3E_ENST00000440596.2_Silent_p.E351E|HTR3E_ENST00000335304.2_Silent_p.E340E|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	325					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.E340E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	GCCTGCTGGAGACCATCTTCA	0.652																																					p.E340E	Melanoma(7;227 727 6634 44770)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1020A	3						.						79.0	76.0	77.0					3																	183823965		2203	4298	6501	185306659	SO:0001819	synonymous_variant	285242	exon7			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.975G>A	3.37:g.183823965G>A		Somatic		Capture	Illumina HiSeq	Phase_I	185306659	NM_182589	A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	ENST00000415389.2	37	CCDS58868.1																																																																																				0.652	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346284.1	NM_182589	
PSMD2	5708	broad.mit.edu	37	3	184025435	184025435	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:184025435G>A	ENST00000310118.4	+	18	2795	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	PSMD2_ENST00000435761.1_Missense_Mutation_p.R587H|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.R616H	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	746					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.R746H(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCAATGCTGCGCCAGTTAGCT	0.483																																					p.R746H	Colon(24;313 636 6917 9932 15554)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2237A	3						.						77.0	71.0	73.0					3																	184025435		2203	4300	6503	185508129	SO:0001583	missense	5708	exon18			AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2237G>A	3.37:g.184025435G>A	ENSP00000310129:p.Arg746His	Somatic		Capture	Illumina HiSeq	Phase_I	185508129	NM_002808	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	CCDS3258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.327388|5.327388	0.95708|0.95708	.|.	.|.	ENSG00000175166|ENSG00000175166	ENST00000432855|ENST00000310118;ENST00000358216;ENST00000538096;ENST00000435761;ENST00000439383	.|T;T;T	.|0.32988	.|1.43;1.43;1.43	5.93|5.93	5.93|5.93	0.95920|0.95920	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65004|0.65004	0.2650|0.2650	M|M	0.89287|0.89287	3.02|3.02	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.81914	.|0.995;0.976	T|T	0.69932|0.69932	-0.5011|-0.5011	5|10	.|0.87932	.|D	.|0	-13.938|-13.938	19.9467|19.9467	0.97184|0.97184	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|587;746	.|E9PCS3;Q13200	.|.;PSMD2_HUMAN	T|H	179|746;418;738;587;616	.|ENSP00000310129:R746H;ENSP00000402618:R587H;ENSP00000416028:R616H	.|ENSP00000310129:R746H	A|R	+|+	1|2	0|0	PSMD2|PSMD2	185508129|185508129	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	9.434000|9.434000	0.97515|0.97515	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	GCC|CGC		0.483	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808	
SLC4A7	9497	broad.mit.edu	37	3	27436097	27436097	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:27436097T>C	ENST00000295736.5	-	20	3072	c.3002A>G	c.(3001-3003)aAg>aGg	p.K1001R	SLC4A7_ENST00000440156.1_Missense_Mutation_p.K997R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.K877R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.K997R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.K882R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.K993R|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.K1010R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.K882R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.K551R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.K886R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1001					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.K1001R(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)	TCCCAAAAACTTGGGTTGTTC	0.413																																					p.K1001R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3002G	3						.						80.0	79.0	79.0					3																	27436097		2203	4300	6503	27411101	SO:0001583	missense	9497	exon20			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.3002A>G	3.37:g.27436097T>C	ENSP00000295736:p.Lys1001Arg	Somatic		Capture	Illumina HiSeq	Phase_I	27411101	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	18.31	3.596403	0.66332	.	.	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	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.77	5.77	0.91146	Bicarbonate transporter, C-terminal (1);	0.045509	0.85682	D	0.000000	T	0.76905	0.4053	L	0.33339	1.005	0.80722	D	1	P;B;P;P;P;B;B;P;B	0.45827	0.715;0.035;0.715;0.867;0.715;0.075;0.029;0.715;0.19	P;B;P;P;P;B;B;P;B	0.50754	0.524;0.107;0.524;0.649;0.524;0.159;0.065;0.524;0.246	T	0.75496	-0.3297	10	0.33141	T	0.24	.	16.0958	0.81123	0.0:0.0:0.0:1.0	.	997;882;993;997;1010;551;877;1001;882	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	R	552;1001;877;1010;997;882;993;882;997;886;551;897	ENSP00000411031:K552R;ENSP00000295736:K1001R;ENSP00000416368:K877R;ENSP00000390394:K1010R;ENSP00000414797:K997R;ENSP00000394252:K882R;ENSP00000406605:K993R;ENSP00000407382:K882R;ENSP00000406804:K997R;ENSP00000395336:K886R;ENSP00000373429:K551R;ENSP00000388703:K897R	ENSP00000295736:K1001R	K	-	2	0	SLC4A7	27411101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.085000	0.64468	2.203000	0.70933	0.482000	0.46254	AAG		0.413	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615	
CYP8B1	1582	broad.mit.edu	37	3	42917227	42917227	+	Missense_Mutation	SNP	G	G	A	rs373922271		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:42917227G>A	ENST00000316161.4	-	1	406	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R28C|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	28					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.R28C(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)		CATGGCCTGCGTTGTCGGAGC	0.582																																					p.R28C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C82T	3						.	G	CYS/ARG	1,4403	2.1+/-5.4	0,1,2201	42.0	42.0	42.0		82	2.9	0.0	3		42	0,8600		0,0,4300	no	missense	CYP8B1	NM_004391.2	180	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	28/502	42917227	1,13003	2202	4300	6502	42892231	SO:0001583	missense	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.82C>T	3.37:g.42917227G>A	ENSP00000318867:p.Arg28Cys	Somatic		Capture	Illumina HiSeq	Phase_I	42892231	NM_004391	B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	G	11.39	1.623679	0.28889	2.27E-4	0.0	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.76709	-0.6;-1.04	4.89	2.9	0.33743	.	0.185412	0.41712	N	0.000825	T	0.71904	0.3395	N	0.08118	0	0.22342	N	0.999182	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.60306	-0.7289	10	0.87932	D	0	-13.6822	5.9977	0.19503	0.0987:0.0:0.5908:0.3105	.	28;28	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	C	28	ENSP00000404499:R28C;ENSP00000318867:R28C	ENSP00000318867:R28C	R	-	1	0	CYP8B1	42892231	0.003000	0.15002	0.029000	0.17559	0.142000	0.21351	0.931000	0.28871	1.276000	0.44395	0.561000	0.74099	CGC		0.582	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391	
TGM4	7047	broad.mit.edu	37	3	44943339	44943339	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:44943339A>G	ENST00000296125.4	+	8	955	c.887A>G	c.(886-888)cAc>cGc	p.H296R	RP11-272D20.2_ENST00000427258.1_RNA	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	296					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.H296R(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GATTCAGCTCACGACACAGAA	0.552																																					p.H296R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A887G	3						.						129.0	114.0	119.0					3																	44943339		2203	4300	6503	44918343	SO:0001583	missense	7047	exon8			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.887A>G	3.37:g.44943339A>G	ENSP00000296125:p.His296Arg	Somatic		Capture	Illumina HiSeq	Phase_I	44918343	NM_003241	Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	A	15.58	2.877030	0.51801	.	.	ENSG00000163810	ENST00000296125	T	0.54279	0.58	3.13	-1.57	0.08506	Transglutaminase-like (2);	0.000000	0.46145	U	0.000305	T	0.62551	0.2437	M	0.79614	2.46	0.45439	D	0.998417	D	0.76494	0.999	D	0.75484	0.986	T	0.59883	-0.7370	10	0.87932	D	0	.	2.3442	0.04267	0.5996:0.1569:0.0921:0.1513	.	296	P49221	TGM4_HUMAN	R	296	ENSP00000296125:H296R	ENSP00000296125:H296R	H	+	2	0	TGM4	44918343	0.855000	0.29742	0.000000	0.03702	0.002000	0.02628	2.675000	0.46875	-0.419000	0.07439	0.460000	0.39030	CAC		0.552	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241	
IL17RD	54756	broad.mit.edu	37	3	57132323	57132323	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:57132323C>T	ENST00000296318.7	-	12	1496	c.1408G>A	c.(1408-1410)Gcg>Acg	p.A470T	IL17RD_ENST00000320057.5_Missense_Mutation_p.A326T|IL17RD_ENST00000463523.1_Missense_Mutation_p.A326T|IL17RD_ENST00000427856.2_Missense_Mutation_p.A446T	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	470	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.A326T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CTGAGCGCCGCGGACGAACTC	0.572																																					p.A470T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1408A	3						.						47.0	47.0	47.0					3																	57132323		2203	4300	6503	57107363	SO:0001583	missense	54756	exon12			AF494208	CCDS2880.2	3p21.1	2008-02-05			ENSG00000144730	ENSG00000144730		"""Interleukins and interleukin receptors"""	17616	protein-coding gene	gene with protein product		606807				11802164, 12604616	Standard	NM_017563		Approved	SEF, IL17RLM, FLJ35755, IL-17RD	uc003dil.3	Q8NFM7	OTTHUMG00000150171	ENST00000296318.7:c.1408G>A	3.37:g.57132323C>T	ENSP00000296318:p.Ala470Thr	Somatic		Capture	Illumina HiSeq	Phase_I	57107363	NM_017563	Q2NKP7|Q58EZ7|Q6RVF4|Q6UWI5|Q8N113|Q8NFS0|Q9UFA0	Missense_Mutation	SNP	ENST00000296318.7	37	CCDS2880.2	.	.	.	.	.	.	.	.	.	.	C	9.011	0.982448	0.18889	.	.	ENSG00000144730	ENST00000296318;ENST00000320057;ENST00000427856;ENST00000463523	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.54	2.6	0.31112	SEFIR (1);	0.902169	0.09720	N	0.764573	T	0.25195	0.0612	L	0.36672	1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.001;0.003	B;B;B	0.08055	0.003;0.002;0.001	T	0.22173	-1.0224	10	0.32370	T	0.25	-0.1845	10.8158	0.46575	0.0:0.7818:0.0:0.2182	.	326;470;446	B4DXM5;Q8NFM7;Q8NFM7-3	.;I17RD_HUMAN;.	T	470;326;446;326	ENSP00000296318:A470T;ENSP00000322250:A326T;ENSP00000399209:A446T;ENSP00000417516:A326T	ENSP00000296318:A470T	A	-	1	0	IL17RD	57107363	0.000000	0.05858	0.001000	0.08648	0.204000	0.24138	0.073000	0.14640	0.623000	0.30267	0.655000	0.94253	GCG		0.572	IL17RD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316680.1	NM_017563	
DENND6A	201627	broad.mit.edu	37	3	57619008	57619008	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:57619008C>G	ENST00000311128.5	-	15	1407	c.1337G>C	c.(1336-1338)aGt>aCt	p.S446T	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	446					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.S446T(1)									AATGATGAAACTTTGTGTCAG	0.333																																					p.S446T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1337C	3						.						70.0	73.0	72.0					3																	57619008		2203	4299	6502	57594048	SO:0001583	missense	201627	exon15			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.1337G>C	3.37:g.57619008C>G	ENSP00000311401:p.Ser446Thr	Somatic		Capture	Illumina HiSeq	Phase_I	57594048	NM_152678	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	ENST00000311128.5	37	CCDS33773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.312262|4.312262	0.81358|0.81358	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000471531|ENST00000311128	.|.	.|.	.|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83418|0.83418	0.5250|0.5250	M|M	0.79693|0.79693	2.465|2.465	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.79784	.|0.993	D|D	0.84319|0.84319	0.0515|0.0515	5|9	.|0.59425	.|D	.|0.04	-7.2398|-7.2398	19.7457|19.7457	0.96251|0.96251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|446	.|Q8IWF6	.|F116A_HUMAN	N|T	17|446	.|.	.|ENSP00000311401:S446T	K|S	-|-	3|2	2|0	FAM116A|FAM116A	57594048|57594048	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.363000|7.363000	0.79516|0.79516	2.725000|2.725000	0.93324|0.93324	0.557000|0.557000	0.71058|0.71058	AAG|AGT		0.333	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351594.1	NM_152678	
PCYT1A	5130	broad.mit.edu	37	3	195968891	195968891	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr3:195968891A>C	ENST00000292823.2	-	8	808	c.636T>G	c.(634-636)gaT>gaG	p.D212E	PCYT1A_ENST00000431016.1_Missense_Mutation_p.D212E|PCYT1A_ENST00000419333.1_Missense_Mutation_p.D212E	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	212					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)	p.D212E(1)		cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	ACACATCATAATCCCGCACAA	0.488																																					p.D212E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T636G	3						.						146.0	121.0	129.0					3																	195968891		2203	4300	6503	197453288	SO:0001583	missense	5130	exon8			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.636T>G	3.37:g.195968891A>C	ENSP00000292823:p.Asp212Glu	Somatic		Capture	Illumina HiSeq	Phase_I	197453288	NM_005017	A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266712	0.59540	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	.	.	.	5.65	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	M	0.79475	2.455	0.58432	D	0.999997	B	0.29253	0.239	B	0.20184	0.028	T	0.60332	-0.7284	9	0.87932	D	0	-16.4948	8.6927	0.34275	0.2962:0.0:0.7038:0.0	.	212	P49585	PCY1A_HUMAN	E	212;212;173;212;212;85;146	.	ENSP00000292823:D212E	D	-	3	2	PCYT1A	197453288	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.772000	0.47678	0.764000	0.33197	-0.140000	0.14226	GAT		0.488	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	NM_005017	
CTSO	1519	broad.mit.edu	37	4	156864371	156864371	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr4:156864371C>T	ENST00000433477.3	-	2	250	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	0					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.E61K(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		GTGGAGTTTTCACTGGGAAAT	0.333																																					p.E61K	Pancreas(148;2303 2598 8989 35298)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G181A	4						.						98.0	110.0	106.0					4																	156864371		2203	4298	6501	157083821	SO:0001583	missense	1519	exon2			X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.181G>A	4.37:g.156864371C>T	ENSP00000414904:p.Glu61Lys	Somatic		Capture	Illumina HiSeq	Phase_I	157083821	NM_001334	Q6FHS6	Missense_Mutation	SNP	ENST00000433477.3	37	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144323	0.37825	.	.	ENSG00000256043	ENST00000433477	T	0.30182	1.54	5.69	5.69	0.88448	.	0.439409	0.24983	N	0.034056	T	0.26268	0.0641	L	0.39245	1.2	0.31612	N	0.651333	B	0.24533	0.105	B	0.24006	0.05	T	0.16453	-1.0402	10	0.35671	T	0.21	.	11.978	0.53103	0.0:0.9197:0.0:0.0803	.	61	P43234	CATO_HUMAN	K	61	ENSP00000414904:E61K	ENSP00000281527:E61K	E	-	1	0	CTSO	157083821	0.908000	0.30866	0.961000	0.40146	0.618000	0.37518	2.209000	0.42806	2.698000	0.92095	0.655000	0.94253	GAA		0.333	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334	
ETFDH	2110	broad.mit.edu	37	4	159601706	159601706	+	Missense_Mutation	SNP	G	G	A	rs150105001		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr4:159601706G>A	ENST00000511912.1	+	2	454	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	ETFDH_ENST00000307738.5_Intron	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	41					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.R41Q(1)|p.R41L(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)		ACTGTGCCTCGAATTACTACC	0.353																																					p.R41Q												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G122A	4						.	G	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	122.0	112.0	115.0		122	-1.2	0.8	4	dbSNP_134	115	0,8598		0,0,4299	yes	missense	ETFDH	NM_004453.2	43	0,5,6497	AA,AG,GG		0.0,0.1135,0.0384	benign	41/618	159601706	5,12999	2203	4299	6502	159821156	SO:0001583	missense	2110	exon2			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.122G>A	4.37:g.159601706G>A	ENSP00000426638:p.Arg41Gln	Somatic		Capture	Illumina HiSeq	Phase_I	159821156	NM_004453	B4E3R9|J3KND9|Q7Z347	Missense_Mutation	SNP	ENST00000511912.1	37	CCDS3800.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.54|12.54	1.969063|1.969063	0.34754|0.34754	0.001135|0.001135	0.0|0.0	ENSG00000171503|ENSG00000171503	ENST00000512251|ENST00000511912	T|D	0.79352|0.95171	-1.26|-3.63	5.48|5.48	-1.16|-1.16	0.09678|0.09678	.|.	.|0.206985	.|0.52532	.|N	.|0.000074	D|D	0.89181|0.89181	0.6642|0.6642	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.75510|0.75510	-0.3292|-0.3292	7|10	0.87932|0.27082	D|T	0|0.32	-11.7494|-11.7494	10.6135|10.6135	0.45436|0.45436	0.4443:0.0:0.5557:0.0|0.4443:0.0:0.5557:0.0	.|.	.|41	.|Q16134	.|ETFD_HUMAN	K|Q	21|41	ENSP00000425661:E21K|ENSP00000426638:R41Q	ENSP00000425661:E21K|ENSP00000426638:R41Q	E|R	+|+	1|2	0|0	ETFDH|ETFDH	159821156|159821156	0.999000|0.999000	0.42202|0.42202	0.833000|0.833000	0.33012|0.33012	0.783000|0.783000	0.44284|0.44284	2.898000|2.898000	0.48672|0.48672	-0.533000|-0.533000	0.06323|0.06323	-0.964000|-0.964000	0.02622|0.02622	GAA|CGA		0.353	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2		
MFAP3L	9848	broad.mit.edu	37	4	170912544	170912544	+	Silent	SNP	G	G	A	rs201963500		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr4:170912544G>A	ENST00000361618.3	-	3	1522	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.Y302Y	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	405						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y405Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CATGGCTTTCGTAAATAATGC	0.478																																					p.Y405Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1215T	4						.						154.0	139.0	144.0					4																	170912544		2203	4300	6503	171149119	SO:0001819	synonymous_variant	9848	exon3			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.1215C>T	4.37:g.170912544G>A		Somatic		Capture	Illumina HiSeq	Phase_I	171149119	NM_021647	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	CCDS34103.1																																																																																				0.478	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647	
MFAP3L	9848	broad.mit.edu	37	4	170913261	170913261	+	Silent	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr4:170913261G>A	ENST00000361618.3	-	3	805	c.498C>T	c.(496-498)gtC>gtT	p.V166V	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Silent_p.V63V	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V166V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TGATATTGAGGACCATGACGA	0.522																																					p.V166V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C498T	4						.						138.0	129.0	132.0					4																	170913261		2203	4300	6503	171149836	SO:0001819	synonymous_variant	9848	exon3			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.498C>T	4.37:g.170913261G>A		Somatic		Capture	Illumina HiSeq	Phase_I	171149836	NM_021647	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	ENST00000361618.3	37	CCDS34103.1																																																																																				0.522	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363043.2	NM_021647	
EVC2	132884	broad.mit.edu	37	4	5570275	5570277	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	TGA	TGA	TGA	TGA	TGA	TGA	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr4:5570275_5570277delTGA	ENST00000344408.5	-	20	3504_3506	c.3451_3453delTCA	c.(3451-3453)tcadel	p.S1151del	EVC2_ENST00000310917.2_In_Frame_Del_p.S1071del|EVC2_ENST00000344938.1_In_Frame_Del_p.S1151del	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1151					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)				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						GCTGAGGCTGTGAGGCTGTGGGC	0.665																																					p.1071_1071del												.	.	0			c.3211_3213del	4						.																																			5621178	SO:0001651	inframe_deletion	132884	exon20			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.3451_3453delTCA	4.37:g.5570275_5570277delTGA	ENSP00000342144:p.Ser1151del	None		Capture	Illumina HiSeq	Phase_I	5621176	NM_001166136	Q86YT3|Q86YT4|Q8NG49	In_Frame_Del	DEL	ENST00000344408.5	37	CCDS3382.2																																																																																				0.665	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
JAKMIP1	152789	broad.mit.edu	37	4	6064093	6064093	+	Silent	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr4:6064093G>A	ENST00000282924.5	-	10	1991	c.1506C>T	c.(1504-1506)taC>taT	p.Y502Y	JAKMIP1_ENST00000409021.3_Silent_p.Y502Y|JAKMIP1_ENST00000409371.3_Silent_p.Y317Y|JAKMIP1_ENST00000410077.2_Silent_p.Y337Y|JAKMIP1_ENST00000457227.2_5'Flank|JAKMIP1_ENST00000409831.1_Silent_p.Y502Y	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	502	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.Y502Y(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGAGCAGGGCGTAGGCGCGTT	0.662																																					p.Y502Y												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1506T	4						.						40.0	46.0	44.0					4																	6064093		2201	4294	6495	6114994	SO:0001819	synonymous_variant	152789	exon10			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1506C>T	4.37:g.6064093G>A		Somatic		Capture	Illumina HiSeq	Phase_I	6114994	NM_144720	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	CCDS3385.1																																																																																				0.662	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720	
KLF3	51274	broad.mit.edu	37	4	38698856	38698856	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr4:38698856T>G	ENST00000261438.5	+	6	1315	c.1010T>G	c.(1009-1011)cTc>cGc	p.L337R		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	337					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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.L337R(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						CATCTTGCCCTCCATAGGAAA	0.522																																					p.L337R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1010G	4						.						217.0	184.0	195.0					4																	38698856		2203	4300	6503	38375251	SO:0001583	missense	51274	exon6			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.1010T>G	4.37:g.38698856T>G	ENSP00000261438:p.Leu337Arg	Somatic		Capture	Illumina HiSeq	Phase_I	38375251	NM_016531	Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.131881	0.77662	.	.	ENSG00000109787	ENST00000261438	T	0.68765	-0.35	5.61	4.42	0.53409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000017	T	0.36880	0.0983	N	0.00648	-1.295	0.80722	D	1	B	0.32968	0.392	B	0.35813	0.211	T	0.49041	-0.8980	10	0.54805	T	0.06	.	11.6076	0.51041	0.0:0.0699:0.0:0.9301	.	337	P57682	KLF3_HUMAN	R	337	ENSP00000261438:L337R	ENSP00000261438:L337R	L	+	2	0	KLF3	38375251	1.000000	0.71417	0.769000	0.31535	0.966000	0.64601	8.040000	0.89188	0.950000	0.37743	0.528000	0.53228	CTC		0.522	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2		
NIPAL1	152519	broad.mit.edu	37	4	48036944	48036944	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr4:48036944G>A	ENST00000295461.5	+	5	574	c.508G>A	c.(508-510)Ggg>Agg	p.G170R	NIPAL1_ENST00000508180.1_3'UTR	NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	170						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.G170R(1)		endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						GAACATTCATGGGAAAATAGG	0.363																																					p.G170R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G508A	4						.						85.0	82.0	83.0					4																	48036944		2203	4300	6503	47731701	SO:0001583	missense	152519	exon5			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.508G>A	4.37:g.48036944G>A	ENSP00000295461:p.Gly170Arg	Somatic		Capture	Illumina HiSeq	Phase_I	47731701	NM_207330	B3KTB0|Q68DA9	Missense_Mutation	SNP	ENST00000295461.5	37	CCDS3479.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117519	0.94385	.	.	ENSG00000163293	ENST00000295461	D	0.92545	-3.06	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	H	0.97077	3.935	0.80722	D	1	D	0.69078	0.997	D	0.63381	0.914	D	0.98335	1.0535	10	0.87932	D	0	.	19.7763	0.96395	0.0:0.0:1.0:0.0	.	170	Q6NVV3	NIPA3_HUMAN	R	170	ENSP00000295461:G170R	ENSP00000295461:G170R	G	+	1	0	NIPAL1	47731701	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.726000	0.98782	2.740000	0.93945	0.555000	0.69702	GGG		0.363	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250491.4	NM_207330	
TECRL	253017	broad.mit.edu	37	4	65147248	65147248	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr4:65147248A>T	ENST00000381210.3	-	10	972	c.862T>A	c.(862-864)Tat>Aat	p.Y288N	TECRL_ENST00000507440.1_Missense_Mutation_p.Y288N	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	288					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.Y288N(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAGGGGTTATAATTTGGACTT	0.323																																					p.Y288N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T862A	4						.						99.0	97.0	98.0					4																	65147248		2203	4300	6503	64829843	SO:0001583	missense	253017	exon10			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.862T>A	4.37:g.65147248A>T	ENSP00000370607:p.Tyr288Asn	Somatic		Capture	Illumina HiSeq	Phase_I	64829843	NM_001010874		Missense_Mutation	SNP	ENST00000381210.3	37	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	A	13.20	2.164939	0.38217	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000511997	T;T	0.28069	1.63;1.63	5.56	5.56	0.83823	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.205999	0.41938	D	0.000794	T	0.38188	0.1031	L	0.31294	0.92	0.35136	D	0.768374	D	0.65815	0.995	D	0.63703	0.917	T	0.43766	-0.9371	10	0.23891	T	0.37	-19.8816	12.1585	0.54091	1.0:0.0:0.0:0.0	.	288	Q5HYJ1	TECRL_HUMAN	N	288;288;3	ENSP00000426043:Y288N;ENSP00000370607:Y288N	ENSP00000370607:Y288N	Y	-	1	0	TECRL	64829843	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	3.419000	0.52728	2.116000	0.64780	0.529000	0.55759	TAT		0.323	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874	
ASB5	140458	broad.mit.edu	37	4	177142327	177142327	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr4:177142327T>G	ENST00000296525.3	-	5	762	c.649A>C	c.(649-651)Atc>Ctc	p.I217L	ASB5_ENST00000511879.1_5'Flank|ASB5_ENST00000512254.1_Missense_Mutation_p.I164L	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	217					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.I217L(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)		AGCTTCCAGATGCAATGGAAT	0.373																																					p.I217L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A649C	4						.						80.0	76.0	77.0					4																	177142327		2203	4300	6503	177379321	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.649A>C	4.37:g.177142327T>G	ENSP00000296525:p.Ile217Leu	Somatic		Capture	Illumina HiSeq	Phase_I	177379321	NM_080874	Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	T	15.13	2.742972	0.49151	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.64618	-0.11;-0.07	5.91	-9.05	0.00730	Ankyrin repeat-containing domain (4);	0.628977	0.18003	N	0.154851	T	0.43433	0.1247	N	0.13043	0.29	0.26524	N	0.974377	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.01670	-1.1299	10	0.66056	D	0.02	-2.3407	23.2611	0.99981	0.0:0.7509:0.0:0.2491	.	217;164	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	L	217;164	ENSP00000296525:I217L;ENSP00000422877:I164L	ENSP00000296525:I217L	I	-	1	0	ASB5	177379321	0.015000	0.18098	0.041000	0.18516	0.993000	0.82548	-0.291000	0.08343	-1.886000	0.01116	-0.408000	0.06270	ATC		0.373	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1		
APC	324	broad.mit.edu	37	5	112175639	112175639	+	Nonsense_Mutation	SNP	C	C	T	rs121913332		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:112175639C>T	ENST00000457016.1	+	16	4728	c.4348C>T	c.(4348-4350)Cga>Tga	p.R1450*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Nonsense_Mutation_p.R1450*|APC_ENST00000257430.4_Nonsense_Mutation_p.R1450*			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	
PCDHB2	56133	broad.mit.edu	37	5	140475901	140475901	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:140475901C>T	ENST00000194155.4	+	1	1675	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	509	Cadherin 5. {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.N509N(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)			TCTCCATCAACGCGGACAACG	0.706																																					p.N509N												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1527T	5						.						82.0	87.0	85.0					5																	140475901		2203	4300	6503	140456085	SO:0001819	synonymous_variant	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.1527C>T	5.37:g.140475901C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140456085	NM_018936	Q4KMU1	Silent	SNP	ENST00000194155.4	37	CCDS4244.1																																																																																				0.706	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936	
PCDHB7	56129	broad.mit.edu	37	5	140552971	140552971	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:140552971C>T	ENST00000231137.3	+	1	729	c.555C>T	c.(553-555)agC>agT	p.S185S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	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.S185S(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)			TCCATGATAGCGGGGAGGGGA	0.483																																					p.S185S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C555T	5						.						62.0	60.0	61.0					5																	140552971		2203	4300	6503	140533155	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.555C>T	5.37:g.140552971C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140533155	NM_018940	A1L3Y8	Silent	SNP	ENST00000231137.3	37	CCDS4249.1																																																																																				0.483	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
PCDHGB6	56100	broad.mit.edu	37	5	140789436	140789436	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:140789436A>G	ENST00000520790.1	+	1	1667	c.1667A>G	c.(1666-1668)aAt>aGt	p.N556S	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	556	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.N556S(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)			GGAGACCGCAATGACAACGCA	0.672																																					p.N556S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1667G	5						.						24.0	32.0	29.0					5																	140789436		2085	4213	6298	140769620	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.1667A>G	5.37:g.140789436A>G	ENSP00000428603:p.Asn556Ser	Somatic		Capture	Illumina HiSeq	Phase_I	140769620	NM_018926	Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	21.7	4.187710	0.78789	.	.	ENSG00000253305	ENST00000520790	D	0.85171	-1.95	5.26	5.26	0.73747	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.95971	0.8688	H	0.99682	4.7	0.35292	D	0.782304	D;D	0.76494	0.999;0.999	D;D	0.71414	0.967;0.973	D	0.99971	1.1997	9	0.87932	D	0	.	14.8491	0.70284	1.0:0.0:0.0:0.0	.	556;556	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	S	556	ENSP00000428603:N556S	ENSP00000428603:N556S	N	+	2	0	PCDHGB6	140769620	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.306000	0.96204	1.991000	0.58162	0.379000	0.24179	AAT		0.672	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926	
GABRG2	2566	broad.mit.edu	37	5	161520942	161520942	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:161520942C>A	ENST00000361925.4	+	2	436	c.216C>A	c.(214-216)aaC>aaA	p.N72K	GABRG2_ENST00000393933.4_De_novo_Start_InFrame|GABRG2_ENST00000356592.3_Missense_Mutation_p.N72K|GABRG2_ENST00000414552.2_Missense_Mutation_p.N72K			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	72					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)	p.N72K(1)		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)	TCTTAAACAACCTGCTGGAAG	0.393																																					p.N72K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C216A	5						.						160.0	154.0	156.0					5																	161520942		2203	4300	6503	161453520	SO:0001583	missense	2566	exon2				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.216C>A	5.37:g.161520942C>A	ENSP00000354651:p.Asn72Lys	Somatic		Capture	Illumina HiSeq	Phase_I	161453520	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	9.330	1.060338	0.19987	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	T;T;T	0.77620	-1.11;-1.11;-1.11	5.82	2.13	0.27403	Neurotransmitter-gated ion-channel ligand-binding (3);	0.137510	0.64402	D	0.000002	T	0.48960	0.1529	N	0.04686	-0.185	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.26155	-1.0111	10	0.07644	T	0.81	.	6.0213	0.19630	0.0:0.4872:0.1264:0.3864	.	72;72;72	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	K	72	ENSP00000349000:N72K;ENSP00000410732:N72K;ENSP00000354651:N72K	ENSP00000349000:N72K	N	+	3	2	GABRG2	161453520	0.001000	0.12720	0.999000	0.59377	0.974000	0.67602	-1.135000	0.03225	0.399000	0.25367	-0.253000	0.11424	AAC		0.393	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
NSUN2	54888	broad.mit.edu	37	5	6609989	6609989	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:6609989C>A	ENST00000264670.6	-	12	1584	c.1273G>T	c.(1273-1275)Gca>Tca	p.A425S	NSUN2_ENST00000506139.1_Missense_Mutation_p.A390S|NSUN2_ENST00000539938.1_Missense_Mutation_p.A189S	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	425					mitotic nuclear division (GO:0007067)|tRNA methylation (GO:0030488)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|tRNA (cytosine-5-)-methyltransferase activity (GO:0016428)|tRNA binding (GO:0000049)	p.A425S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACCAATACTGCCACAAAAAAC	0.323																																					p.A425S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1273T	5						.						69.0	72.0	71.0					5																	6609989		2203	4300	6503	6662989	SO:0001583	missense	54888	exon12			AK000310	CCDS3869.1, CCDS54832.1	5p15.32	2014-01-31	2012-06-12		ENSG00000037474	ENSG00000037474		"""NOP2/Sun domain containing"""	25994	protein-coding gene	gene with protein product	"""tRNA methyltransferase 4 homolog (S. cerevisiae)"", ""Myc-induced SUN-domain-containing protein"""	610916	"""NOL1/NOP2/Sun domain family, member 2"", ""NOP2/Sun domain family, member 2"", ""mental retardation, non-syndromic, autosomal recessive, 5"""	MRT5		17071714, 22541559	Standard	NM_017755		Approved	FLJ20303, TRM4, Misu	uc003jdu.3	Q08J23	OTTHUMG00000090455	ENST00000264670.6:c.1273G>T	5.37:g.6609989C>A	ENSP00000264670:p.Ala425Ser	Somatic		Capture	Illumina HiSeq	Phase_I	6662989	NM_017755	A8K529|B2RNR4|B3KP09|B4DQW2|G3V1R4|Q9BVN4|Q9H858|Q9NXD9	Missense_Mutation	SNP	ENST00000264670.6	37	CCDS3869.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079315	0.94050	.	.	ENSG00000037474	ENST00000264670;ENST00000539938;ENST00000506139	T;T;T	0.20463	2.07;2.55;2.07	5.42	5.42	0.78866	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.50735	0.1633	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.971	T	0.52719	-0.8538	10	0.62326	D	0.03	-29.3036	19.2178	0.93785	0.0:1.0:0.0:0.0	.	390;425	B4DQW2;Q08J23	.;NSUN2_HUMAN	S	425;189;390	ENSP00000264670:A425S;ENSP00000444338:A189S;ENSP00000420957:A390S	ENSP00000264670:A425S	A	-	1	0	NSUN2	6662989	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.976000	0.76135	2.546000	0.85860	0.555000	0.69702	GCA		0.323	NSUN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206902.1	NM_017755	
UGT3A2	167127	broad.mit.edu	37	5	36036005	36036005	+	Missense_Mutation	SNP	A	A	C	rs201308652		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A	A	A	A	A	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:36036005A>C	ENST00000282507.3	-	7	1468	c.1367T>G	c.(1366-1368)gTg>gGg	p.V456G	UGT3A2_ENST00000545528.1_Missense_Mutation_p.V154G|UGT3A2_ENST00000513300.1_Missense_Mutation_p.V422G	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	456					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.V456G(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)			AATCCAGCCCACCAGCCGCTG	0.607																																					p.V422G												.	.	1	Substitution - Missense(1)	endometrium(1)	c.T1265G	5						.						31.0	31.0	31.0					5																	36036005		2203	4300	6503	36071762	SO:0001583	missense	167127	exon6				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.1367T>G	5.37:g.36036005A>C	ENSP00000282507:p.Val456Gly	None		Capture	Illumina HiSeq	Phase_I	36071762	NM_001168316	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.328112	0.24080	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.71341	-0.56;-0.56;-0.56	2.74	0.117	0.14652	.	0.518222	0.16281	U	0.221352	T	0.81927	0.4926	M	0.93594	3.435	0.50632	D	0.999888	P;D	0.67145	0.736;0.996	P;D	0.64144	0.596;0.922	T	0.76745	-0.2846	10	0.87932	D	0	.	1.4496	0.02372	0.5371:0.1804:0.1077:0.1748	.	422;456	E9PFK7;Q3SY77	.;UD3A2_HUMAN	G	456;422;154	ENSP00000282507:V456G;ENSP00000427404:V422G;ENSP00000445367:V154G	ENSP00000282507:V456G	V	-	2	0	UGT3A2	36071762	1.000000	0.71417	0.948000	0.38648	0.064000	0.16182	1.465000	0.35299	0.019000	0.15079	-0.364000	0.07487	GTG		0.607	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
PDE4D	5144	broad.mit.edu	37	5	59189335	59189335	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:59189335G>T	ENST00000340635.6	-	1	290	c.115C>A	c.(115-117)Cac>Aac	p.H39N	PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502484.2_Intron	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	39					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)	p.H39N(1)		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)	gggTACTGGTGGTGCTGCTCG	0.756																																					p.H39N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C115A	5						.						8.0	17.0	14.0					5																	59189335		1507	2959	4466	59225092	SO:0001583	missense	5144	exon1				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.115C>A	5.37:g.59189335G>T	ENSP00000345502:p.His39Asn	Somatic		Capture	Illumina HiSeq	Phase_I	59225092	NM_001104631	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.707784	0.30322	.	.	ENSG00000113448	ENST00000340635	T	0.64803	-0.12	3.09	2.2	0.27929	.	.	.	.	.	T	0.42966	0.1226	N	0.24115	0.695	0.80722	D	1	B	0.16166	0.016	B	0.06405	0.002	T	0.47898	-0.9081	9	0.66056	D	0.02	.	5.5696	0.17190	0.28:0.0:0.72:0.0	.	39	Q08499	PDE4D_HUMAN	N	39	ENSP00000345502:H39N	ENSP00000345502:H39N	H	-	1	0	PDE4D	59225092	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	1.851000	0.39338	1.733000	0.51620	0.542000	0.68232	CAC		0.756	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3		
SV2C	22987	broad.mit.edu	37	5	75597247	75597247	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:75597247T>C	ENST00000502798.2	+	12	2319	c.1877T>C	c.(1876-1878)tTc>tCc	p.F626S	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.F626S	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	626					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.F626S(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		AGCTGTTTCTTCCTTTGGTTC	0.483																																					p.F626S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1877C	5						.						256.0	245.0	249.0					5																	75597247		2050	4202	6252	75633003	SO:0001583	missense	22987	exon12			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1877T>C	5.37:g.75597247T>C	ENSP00000423541:p.Phe626Ser	Somatic		Capture	Illumina HiSeq	Phase_I	75633003	NM_014979	Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.020846	0.93462	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.51574	0.7;0.7	5.67	5.67	0.87782	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	L	0.43554	1.36	0.58432	D	0.999995	D	0.67145	0.996	D	0.74348	0.983	T	0.61700	-0.7009	10	0.51188	T	0.08	-21.5999	16.2045	0.82114	0.0:0.0:0.0:1.0	.	626	Q496J9	SV2C_HUMAN	S	626	ENSP00000423541:F626S;ENSP00000316983:F626S	ENSP00000316983:F626S	F	+	2	0	SV2C	75633003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.949000	0.87791	2.288000	0.76882	0.533000	0.62120	TTC		0.483	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4		
HAPLN1	1404	broad.mit.edu	37	5	82937432	82937432	+	Silent	SNP	G	G	A	rs199503155		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:82937432G>A	ENST00000274341.4	-	5	1798	c.948C>T	c.(946-948)taC>taT	p.Y316Y		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	316	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.Y316Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	TAGAGATGGGGTAGCGGACGC	0.542																																					p.Y316Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C948T	5						.						109.0	114.0	112.0					5																	82937432		2203	4300	6503	82973188	SO:0001819	synonymous_variant	1404	exon5				CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.948C>T	5.37:g.82937432G>A		Somatic		Capture	Illumina HiSeq	Phase_I	82973188	NM_001884	B2R9A9	Silent	SNP	ENST00000274341.4	37	CCDS4061.1																																																																																				0.542	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884	
APC	324	broad.mit.edu	37	5	112174180	112174180	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:112174180delT	ENST00000457016.1	+	16	3269	c.2889delT	c.(2887-2889)agtfs	p.S963fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.S963fs|APC_ENST00000257430.4_Frame_Shift_Del_p.S963fs			P25054	APC_HUMAN	adenomatous polyposis coli	963	Responsible for down-regulation through a process mediated by direct ubiquitination.|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.L964fs*1(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)		CAAATGATAGTTTAAATAGTG	0.328		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.S945fs	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)|Deletion - Frameshift(1)	large_intestine(1)|skin(1)	c.2835delT	5						.						68.0	67.0	67.0					5																	112174180		2202	4300	6502	112202079	SO:0001589	frameshift_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.2889delT	5.37:g.112174180delT	ENSP00000413133:p.Ser963fs	Somatic		Capture	Illumina HiSeq	Phase_I	112202079	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.328	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
GABRG2	2566	broad.mit.edu	37	5	161530999	161530999	+	Silent	SNP	A	A	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr5:161530999A>C	ENST00000361925.4	+	6	956	c.736A>C	c.(736-738)Aga>Cga	p.R246R	GABRG2_ENST00000393933.4_Silent_p.R151R|GABRG2_ENST00000356592.3_Silent_p.R246R|GABRG2_ENST00000414552.2_Silent_p.R286R			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	246					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)	p.R246R(1)		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)	TGTTGGTCTAAGAAATACCAC	0.393																																					p.R246R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A736C	5						.						95.0	92.0	93.0					5																	161530999		2203	4300	6503	161463577	SO:0001819	synonymous_variant	2566	exon6				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.736A>C	5.37:g.161530999A>C		Somatic		Capture	Illumina HiSeq	Phase_I	161463577	NM_198904	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Silent	SNP	ENST00000361925.4	37	CCDS4358.1																																																																																				0.393	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
TMEM14C	51522	broad.mit.edu	37	6	10726168	10726168	+	Silent	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr6:10726168G>A	ENST00000541412.1	+	4	511	c.126G>A	c.(124-126)ctG>ctA	p.L42L	TMEM14C_ENST00000229563.5_Silent_p.L42L|TMEM14C_ENST00000467415.1_3'UTR	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	42					heme biosynthetic process (GO:0006783)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.L42L(1)		large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			CTGCAGGGCTGCTCTTTGGCA	0.552																																					p.L42L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G126A	6						.						136.0	119.0	124.0					6																	10726168		2203	4300	6503	10834154	SO:0001819	synonymous_variant	51522	exon4			AF151028	CCDS4514.1	6p24.1	2008-02-26	2004-04-16	2004-04-21	ENSG00000111843	ENSG00000111843			20952	protein-coding gene	gene with protein product		615318	"""chromosome 6 open reading frame 53"""	C6orf53		11042152, 12958361	Standard	NM_016462		Approved	HSPC194, bA421M1.6, NET26	uc021ylj.1	Q9P0S9	OTTHUMG00000014242	ENST00000541412.1:c.126G>A	6.37:g.10726168G>A		Somatic		Capture	Illumina HiSeq	Phase_I	10834154	NM_016462	Q5T4I6	Silent	SNP	ENST00000541412.1	37	CCDS4514.1																																																																																				0.552	TMEM14C-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039829.1	NM_016462	
SEC63	11231	broad.mit.edu	37	6	108230188	108230188	+	Missense_Mutation	SNP	G	G	A	rs148837883		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr6:108230188G>A	ENST00000369002.4	-	8	855	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	226	SEC63 1.				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.R226C(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)		TGTGTTGTGCGTATTAGAATC	0.303																																					p.R226C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C676T	6						.	G	CYS/ARG	0,4406		0,0,2203	102.0	99.0	100.0		676	5.0	1.0	6	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	SEC63	NM_007214.4	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	226/761	108230188	1,13005	2203	4300	6503	108336881	SO:0001583	missense	11231	exon8			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.676C>T	6.37:g.108230188G>A	ENSP00000357998:p.Arg226Cys	Somatic		Capture	Illumina HiSeq	Phase_I	108336881	NM_007214	O95380|Q5THN4|Q86VS9|Q8IWL0|Q9NTE0	Missense_Mutation	SNP	ENST00000369002.4	37	CCDS5061.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260138	0.80246	0.0	1.16E-4	ENSG00000025796	ENST00000369002;ENST00000423697	T	0.61510	0.1	4.97	4.97	0.65823	Sec63 domain (3);	0.112551	0.64402	D	0.000009	T	0.53997	0.1831	N	0.22421	0.69	0.58432	D	0.999998	D;D	0.76494	0.991;0.999	P;P	0.60886	0.862;0.88	T	0.62201	-0.6904	10	0.66056	D	0.02	-5.68	18.2334	0.89941	0.0:0.0:1.0:0.0	.	226;226	Q9UGP8;B3KQF0	SEC63_HUMAN;.	C	226;86	ENSP00000357998:R226C	ENSP00000357998:R226C	R	-	1	0	SEC63	108336881	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.972000	0.76110	2.298000	0.77334	0.557000	0.71058	CGC		0.303	SEC63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041705.4	NM_007214	
SOGA3	387104	broad.mit.edu	37	6	127796705	127796705	+	Silent	SNP	G	G	A	rs373602535		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr6:127796705G>A	ENST00000525778.1	-	6	3211	c.2466C>T	c.(2464-2466)gcC>gcT	p.A822A	SOGA3_ENST00000368268.2_Silent_p.A822A|SOGA3_ENST00000465909.2_Silent_p.A822A|SOGA3_ENST00000481848.2_Silent_p.A822A|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000556132.1_Silent_p.A822A			Q5TF21	SOGA3_HUMAN	SOGA family member 3	822					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.A822A(1)									CCAGGCGCTCGGCCTCCGAGC	0.672																																					p.A822A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2466T	6						.	G		2,4262		0,2,2130	58.0	68.0	65.0		2466	2.2	1.0	6		65	3,8471		0,3,4234	no	coding-synonymous	C6orf174	NM_001012279.2		0,5,6364	AA,AG,GG		0.0354,0.0469,0.0393		822/948	127796705	5,12733	2132	4237	6369	127838398	SO:0001819	synonymous_variant	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.2466C>T	6.37:g.127796705G>A		Somatic		Capture	Illumina HiSeq	Phase_I	127838398	NM_001012279		Silent	SNP	ENST00000525778.1	37	CCDS43505.1																																																																																				0.672	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279	
ITPR3	3710	broad.mit.edu	37	6	33626590	33626590	+	Silent	SNP	G	G	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr6:33626590G>T	ENST00000374316.5	+	6	1573	c.513G>T	c.(511-513)cgG>cgT	p.R171R	ITPR3_ENST00000605930.1_Silent_p.R171R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	171	MIR 1. {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.R171R(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)	GGAAGCTGCGGAGCAACGGGG	0.637																																					p.R171R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G513T	6						.						66.0	68.0	67.0					6																	33626590		2203	4300	6503	33734568	SO:0001819	synonymous_variant	3710	exon5			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.513G>T	6.37:g.33626590G>T		Somatic		Capture	Illumina HiSeq	Phase_I	33734568	NM_002224	Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	CCDS4783.1																																																																																				0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
CRISP3	10321	broad.mit.edu	37	6	49696448	49696448	+	Missense_Mutation	SNP	A	A	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr6:49696448A>T	ENST00000393666.1	-	7	739	c.733T>A	c.(733-735)Tat>Aat	p.Y245N	CRISP3_ENST00000433368.2_Missense_Mutation_p.Y268N|CRISP3_ENST00000423399.2_Missense_Mutation_p.Y155N|CRISP3_ENST00000263045.4_Missense_Mutation_p.Y258N|CRISP3_ENST00000371159.4_Missense_Mutation_p.Y276N			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	245					defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.Y245N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CGTATTTAATAAATGCTGTTT	0.378																																					p.Y258N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T772A	6						.						170.0	155.0	160.0					6																	49696448		2203	4300	6503	49804407	SO:0001583	missense	10321	exon8			X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.733T>A	6.37:g.49696448A>T	ENSP00000377274:p.Tyr245Asn	Somatic		Capture	Illumina HiSeq	Phase_I	49804407	NM_006061	A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37		.	.	.	.	.	.	.	.	.	.	A	12.30	1.897415	0.33535	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159	T;T;T;T;T	0.16597	2.81;2.76;2.86;2.33;2.76	4.38	1.65	0.23941	Cysteine-rich secretory protein (1);	0.313017	0.19943	U	0.102608	T	0.16557	0.0398	M	0.75264	2.295	0.22389	N	0.999141	D	0.57257	0.979	P	0.61533	0.89	T	0.07177	-1.0786	10	0.72032	D	0.01	.	2.2177	0.03964	0.5871:0.0:0.1726:0.2403	.	245	P54108	CRIS3_HUMAN	N	258;268;245;155;276	ENSP00000263045:Y258N;ENSP00000389026:Y268N;ENSP00000377274:Y245N;ENSP00000410469:Y155N;ENSP00000360201:Y276N	ENSP00000263045:Y258N	Y	-	1	0	CRISP3	49804407	0.204000	0.23447	0.823000	0.32752	0.043000	0.13939	0.033000	0.13754	0.623000	0.30267	0.496000	0.49642	TAT		0.378	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061	
EYS	346007	broad.mit.edu	37	6	66054059	66054059	+	Missense_Mutation	SNP	C	C	T	rs151187049		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr6:66054059C>T	ENST00000370621.3	-	10	1997	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	EYS_ENST00000342421.5_Missense_Mutation_p.E491K|EYS_ENST00000503581.1_Missense_Mutation_p.E491K|EYS_ENST00000393380.2_Missense_Mutation_p.E491K|EYS_ENST00000370618.3_Missense_Mutation_p.E491K|EYS_ENST00000370616.2_Missense_Mutation_p.E491K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	491					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.E491K(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						TGGCACTTTTCGCCTTCAGAT	0.333																																					p.E491K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1471A	6						.	C	LYS/GLU,LYS/GLU,LYS/GLU	2,4404	2.1+/-5.4	0,2,2201	70.0	71.0	71.0		1471,1471,1471	0.2	0.0	6	dbSNP_134	71	0,8600		0,0,4300	no	missense,missense,missense	EYS	NM_001142800.1,NM_001142801.1,NM_198283.1	56,56,56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	491/3145,491/620,491/595	66054059	2,13004	2203	4300	6503	66110780	SO:0001583	missense	346007	exon9				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.1471G>A	6.37:g.66054059C>T	ENSP00000359655:p.Glu491Lys	Somatic		Capture	Illumina HiSeq	Phase_I	66110780	NM_198283	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	c	0.654	-0.808493	0.02819	4.54E-4	0.0	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	4.31	0.245	0.15512	.	.	.	.	.	T	0.53594	0.1806	L	0.29908	0.895	0.09310	N	1	P;P;P	0.45176	0.828;0.852;0.769	B;B;B	0.37422	0.1;0.249;0.126	T	0.48658	-0.9016	9	0.39692	T	0.17	.	3.6384	0.08158	0.1707:0.5241:0.0:0.3052	.	491;491;491	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	K	491	ENSP00000424243:E491K;ENSP00000359655:E491K;ENSP00000359650:E491K;ENSP00000377042:E491K;ENSP00000341818:E491K;ENSP00000359652:E491K	ENSP00000341818:E491K	E	-	1	0	EYS	66110780	0.048000	0.20356	0.025000	0.17156	0.173000	0.22820	0.736000	0.26130	-0.043000	0.13513	0.655000	0.94253	GAA		0.333	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	XM_294050	
BAI3	577	broad.mit.edu	37	6	69758142	69758142	+	Silent	SNP	C	C	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr6:69758142C>A	ENST00000370598.1	+	14	2994	c.2173C>A	c.(2173-2175)Cgg>Agg	p.R725R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	725					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.R725R(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)				AATGAAAGGACGGAAGGGAAT	0.358																																					p.R725R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2173A	6						.						73.0	79.0	77.0					6																	69758142		2203	4300	6503	69814863	SO:0001819	synonymous_variant	577	exon14			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.2173C>A	6.37:g.69758142C>A		Somatic		Capture	Illumina HiSeq	Phase_I	69814863	NM_001704	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.358	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1		
BCLAF1	9774	broad.mit.edu	37	6	136594276	136594276	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr6:136594276C>T	ENST00000531224.1	-	7	2154	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	BCLAF1_ENST00000527759.1_Silent_p.S632S|BCLAF1_ENST00000353331.4_Silent_p.S632S|BCLAF1_ENST00000527536.1_Silent_p.S634S|BCLAF1_ENST00000392348.2_Silent_p.S632S|BCLAF1_ENST00000530767.1_Silent_p.S461S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	634					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.S634S(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)		CTTTCTGATACGAAGTGAACC	0.388																																					p.S634S	Colon(142;1534 1789 5427 7063 28491)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1902A	6						.						234.0	234.0	234.0					6																	136594276		2203	4300	6503	136635969	SO:0001819	synonymous_variant	9774	exon7			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.1902G>A	6.37:g.136594276C>T		Somatic		Capture	Illumina HiSeq	Phase_I	136635969	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	ENST00000531224.1	37	CCDS5177.1																																																																																				0.388	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
OGDH	4967	broad.mit.edu	37	7	44687327	44687327	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr7:44687327C>T	ENST00000222673.5	+	4	528	c.486C>T	c.(484-486)ccC>ccT	p.P162P	OGDH_ENST00000543843.1_Intron|OGDH_ENST00000447398.1_Intron|OGDH_ENST00000444676.1_Silent_p.P162P|OGDH_ENST00000449767.1_Intron|OGDH_ENST00000443864.2_Silent_p.P162P|OGDH_ENST00000439616.2_Intron	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	162					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)	p.P162P(1)		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)	CCTCCGTGCCCGCTGACATTA	0.567																																					p.P162P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C486T	7						.						116.0	106.0	109.0					7																	44687327		2203	4300	6503	44653852	SO:0001819	synonymous_variant	4967	exon4			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.486C>T	7.37:g.44687327C>T		Somatic		Capture	Illumina HiSeq	Phase_I	44653852	NM_001003941	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	ENST00000222673.5	37	CCDS34627.1																																																																																				0.567	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1		
IQCE	23288	broad.mit.edu	37	7	2629605	2629605	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr7:2629605delC	ENST00000402050.2	+	14	1293	c.1109delC	c.(1108-1110)gccfs	p.A370fs	IQCE_ENST00000325979.7_Frame_Shift_Del_p.A305fs|IQCE_ENST00000438376.2_Frame_Shift_Del_p.A354fs|IQCE_ENST00000404984.1_Frame_Shift_Del_p.A319fs	NM_001100390.1|NM_152558.3	NP_001093860.1|NP_689771.3	Q6IPM2	IQCE_HUMAN	IQ motif containing E	370						mitochondrion (GO:0005739)		p.C371fs*27(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)		CACCCGCCAGCCTGCCTTGCA	0.567																																					p.A370fs												.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.1109delC	7						.						50.0	60.0	57.0					7																	2629605		2098	4230	6328	2596131	SO:0001589	frameshift_variant	23288	exon14			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.1109delC	7.37:g.2629605delC	ENSP00000385597:p.Ala370fs	Somatic		Capture	Illumina HiSeq	Phase_I	2596131	NM_152558	Q4G0P7|Q6P7T4|Q9H0H7|Q9UPX7	Frame_Shift_Del	DEL	ENST00000402050.2	37	CCDS43542.1																																																																																				0.567	IQCE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325063.2	NM_152558	
BAZ1B	9031	broad.mit.edu	37	7	72856785	72856785	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr7:72856785delT	ENST00000339594.4	-	19	4531	c.4193delA	c.(4192-4194)tacfs	p.Y1398fs	BAZ1B_ENST00000404251.1_Frame_Shift_Del_p.Y1398fs	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	1398	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.Y1398fs*11(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACAGAGCGGTAGCTCCCACA	0.512																																					p.Y1398fs	Esophageal Squamous(112;1167 1561 21085 43672 48228)											.	.	1	Deletion - Frameshift(1)	large_intestine(1)	c.4193delA	7						.						93.0	88.0	90.0					7																	72856785		2203	4300	6503	72494721	SO:0001589	frameshift_variant	9031	exon19			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.4193delA	7.37:g.72856785delT	ENSP00000342434:p.Tyr1398fs	Somatic		Capture	Illumina HiSeq	Phase_I	72494721	NM_032408	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Frame_Shift_Del	DEL	ENST00000339594.4	37	CCDS5549.1																																																																																				0.512	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
COL1A2	1278	broad.mit.edu	37	7	94052382	94052382	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr7:94052382C>T	ENST00000297268.6	+	40	2988	c.2517C>T	c.(2515-2517)ccC>ccT	p.P839P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	839			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|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)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)	p.P839P(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAGTTGGTCCCCCTGGCTTCG	0.532										HNSCC(75;0.22)																											p.P839P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2517T	7						.						139.0	130.0	133.0					7																	94052382		2203	4300	6503	93890318	SO:0001819	synonymous_variant	1278	exon40			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2517C>T	7.37:g.94052382C>T		Somatic		Capture	Illumina HiSeq	Phase_I	93890318	NM_000089	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	CCDS34682.1																																																																																				0.532	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089	
SPAG1	6674	broad.mit.edu	37	8	101178193	101178193	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr8:101178193G>A	ENST00000388798.2	+	3	483	c.292G>A	c.(292-294)Gat>Aat	p.D98N	SPAG1_ENST00000520643.1_Missense_Mutation_p.D98N|SPAG1_ENST00000520508.1_Missense_Mutation_p.D98N|SPAG1_ENST00000251809.3_Missense_Mutation_p.D98N	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	98					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)			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)		AATTGATGGTGATATAAAGGT	0.373																																					p.D98N												.	.	0			c.G292A	8						.						57.0	58.0	57.0					8																	101178193		2203	4300	6503	101247369	SO:0001583	missense	6674	exon3			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.292G>A	8.37:g.101178193G>A	ENSP00000373450:p.Asp98Asn	None		Capture	Illumina HiSeq	Phase_I	101247369	NM_003114	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539415	0.85917	.	.	ENSG00000104450	ENST00000520643;ENST00000251809;ENST00000520508;ENST00000388798	T;T;T;T	0.15603	2.41;2.41;2.41;2.41	5.81	5.81	0.92471	.	0.259745	0.38605	N	0.001634	T	0.44307	0.1287	M	0.69823	2.125	0.52099	D	0.999946	D;D	0.76494	0.999;0.999	D;D	0.76575	0.965;0.988	T	0.26916	-1.0089	10	0.87932	D	0	-35.3195	18.8336	0.92151	0.0:0.0:1.0:0.0	.	98;98	Q07617;G3XAM3	SPAG1_HUMAN;.	N	98	ENSP00000427716:D98N;ENSP00000251809:D98N;ENSP00000428070:D98N;ENSP00000373450:D98N	ENSP00000251809:D98N	D	+	1	0	SPAG1	101247369	1.000000	0.71417	0.886000	0.34754	0.845000	0.48019	8.410000	0.90225	2.750000	0.94351	0.655000	0.94253	GAT		0.373	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218	
RIMS2	9699	broad.mit.edu	37	8	104897950	104897950	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr8:104897950A>G	ENST00000436393.2	+	2	698	c.457A>G	c.(457-459)Aat>Gat	p.N153D	RIMS2_ENST00000507740.1_Missense_Mutation_p.N183D|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.N375D|RIMS2_ENST00000262231.10_Missense_Mutation_p.N183D			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	406	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.N183D(1)|p.N153D(1)|p.N411D(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)			TTCTTTGGCAAATGCTGATCT	0.453										HNSCC(12;0.0054)																											p.N375D												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.A1123G	8						.						91.0	91.0	91.0					8																	104897950		1961	4142	6103	104967126	SO:0001583	missense	9699	exon4			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.457A>G	8.37:g.104897950A>G	ENSP00000390665:p.Asn153Asp	Somatic		Capture	Illumina HiSeq	Phase_I	104967126	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	A	12.14	1.847614	0.32606	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.36878	1.43;1.43;1.23;1.23;1.23;1.23;1.23	5.32	5.32	0.75619	.	.	.	.	.	T	0.41026	0.1141	L	0.36672	1.1	0.80722	D	1	P;B;P;P;P	0.46952	0.61;0.397;0.887;0.622;0.835	B;B;P;B;B	0.54544	0.277;0.103;0.755;0.295;0.39	T	0.13229	-1.0517	9	0.30854	T	0.27	.	11.2986	0.49292	0.8476:0.1523:0.0:0.0	.	406;153;183;183;375	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	D	375;406;375;406;183;183;183;183;153	ENSP00000427018:N375D;ENSP00000384892:N375D;ENSP00000425205:N183D;ENSP00000262231:N183D;ENSP00000423559:N183D;ENSP00000386228:N183D;ENSP00000390665:N153D	ENSP00000262231:N183D	N	+	1	0	RIMS2	104967126	0.998000	0.40836	1.000000	0.80357	0.933000	0.57130	3.442000	0.52900	2.006000	0.58801	0.383000	0.25322	AAT		0.453	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
DPYS	1807	broad.mit.edu	37	8	105479097	105479097	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr8:105479097C>T	ENST00000351513.2	-	1	184	c.52G>A	c.(52-54)Gac>Aac	p.D18N		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	18					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.D18N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TCCGAGAAGTCATCGTTGACC	0.761																																					p.D18N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G52A	8						.						10.0	11.0	11.0					8																	105479097		1982	3807	5789	105548273	SO:0001583	missense	1807	exon1			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.52G>A	8.37:g.105479097C>T	ENSP00000276651:p.Asp18Asn	Somatic		Capture	Illumina HiSeq	Phase_I	105548273	NM_001385		Missense_Mutation	SNP	ENST00000351513.2	37	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747795	0.89663	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.82433	-1.61;-1.61	4.47	4.47	0.54385	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	L	0.42581	1.335	0.58432	D	0.999999	D	0.76494	0.999	D	0.91635	0.999	D	0.89270	0.3604	10	0.87932	D	0	-26.63	16.0814	0.81007	0.0:1.0:0.0:0.0	.	18	Q14117	DPYS_HUMAN	N	18	ENSP00000276651:D18N;ENSP00000430246:D18N	ENSP00000276651:D18N	D	-	1	0	DPYS	105548273	1.000000	0.71417	0.995000	0.50966	0.482000	0.33219	5.350000	0.66016	2.316000	0.78162	0.585000	0.79938	GAC		0.761	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	NM_001385	
SPIDR	23514	broad.mit.edu	37	8	48320463	48320463	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr8:48320463G>C	ENST00000297423.4	+	7	1201	c.817G>C	c.(817-819)Gag>Cag	p.E273Q	SPIDR_ENST00000518074.1_Missense_Mutation_p.E213Q|SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000541342.1_Missense_Mutation_p.E203Q	NM_001080394.2|NM_001282916.1	NP_001073863.1|NP_001269845.1	Q14159	SPIDR_HUMAN	scaffolding protein involved in DNA repair	273	Necessary for interaction with RAD51.				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)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of double-strand break repair (GO:2000781)|positive regulation of protein complex assembly (GO:0031334)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of establishment of protein localization to chromosome (GO:0070202)	nuclear chromosome (GO:0000228)		p.E273Q(1)									GCAGAATCGAGAGAGATCTGC	0.348																																					p.E273Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G817C	8						.						119.0	112.0	114.0					8																	48320463		1834	4093	5927	48483016	SO:0001583	missense	23514	exon7			AK055680	CCDS43737.1, CCDS64890.1, CCDS64891.1	8q11.21	2013-07-02	2013-07-02	2013-07-02	ENSG00000164808	ENSG00000164808			28971	protein-coding gene	gene with protein product		615384	"""KIAA0146"""	KIAA0146		8590280, 23509288	Standard	XM_005251189		Approved		uc003xqd.3	Q14159	OTTHUMG00000164176	ENST00000297423.4:c.817G>C	8.37:g.48320463G>C	ENSP00000297423:p.Glu273Gln	Somatic		Capture	Illumina HiSeq	Phase_I	48483016	NM_001080394	B4DFV2|B4E0Y6|Q96BI5	Missense_Mutation	SNP	ENST00000297423.4	37	CCDS43737.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.89|15.89	2.967255|2.967255	0.53507|0.53507	.|.	.|.	ENSG00000164808|ENSG00000164808	ENST00000297423;ENST00000518074;ENST00000541342|ENST00000524033	.|.	.|.	.|.	5.0|5.0	4.11|4.11	0.48088|0.48088	.|.	0.205916|.	0.41097|.	N|.	0.000942|.	T|T	0.54287|0.54287	0.1849|0.1849	L|L	0.52759|0.52759	1.655|1.655	0.27483|0.27483	N|N	0.95251|0.95251	P;P;P;P|.	0.35107|.	0.484;0.484;0.484;0.484|.	B;B;B;B|.	0.39738|.	0.308;0.308;0.308;0.308|.	T|T	0.52990|0.52990	-0.8501|-0.8501	9|6	0.52906|0.72032	T|D	0.07|0.01	.|.	14.726|14.726	0.69343|0.69343	0.0:0.146:0.854:0.0|0.0:0.146:0.854:0.0	.|.	213;203;273;273|.	B4E0Y6;B4DFV2;B4DEV5;Q14159|.	.;.;.;K0146_HUMAN|.	Q|T	273;213;203|189	.|.	ENSP00000297423:E273Q|ENSP00000429997:R189T	E|R	+|+	1|2	0|0	KIAA0146|KIAA0146	48483016|48483016	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.918000|0.918000	0.54935|0.54935	3.719000|3.719000	0.54926|0.54926	1.196000|1.196000	0.43129|0.43129	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.348	SPIDR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377611.1	NM_001080394	
PRKDC	5591	broad.mit.edu	37	8	48690285	48690285	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr8:48690285T>A	ENST00000314191.2	-	85	12057	c.12001A>T	c.(12001-12003)Atg>Ttg	p.M4001L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M3970L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	4002	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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.M4002L(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)	AACACATCCATGGTGTTGGTG	0.488								Non-homologous end-joining																													p.P3970P	Esophageal Squamous(79;1091 1253 12329 31680 40677)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A11910T	8						.						158.0	168.0	164.0					8																	48690285		2050	4208	6258	48852838	SO:0001583	missense	5591	exon83				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.12001A>T	8.37:g.48690285T>A	ENSP00000313420:p.Met4001Leu	Somatic		Capture	Illumina HiSeq	Phase_I	48852838	NM_001081640	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.94|15.94	2.979759|2.979759	0.53827|0.53827	.|.	.|.	ENSG00000253729|ENSG00000253729	ENST00000536429|ENST00000314191;ENST00000338368	.|T;T	.|0.62941	.|-0.01;-0.01	5.7|5.7	5.7|5.7	0.88788|0.88788	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	.|0.126360	.|0.64402	.|D	.|0.000001	T|T	0.44477|0.44477	0.1295|0.1295	N|N	0.12443|0.12443	0.215|0.215	0.80722|0.80722	D|D	1|1	.|B;B	.|0.21381	.|0.024;0.055	.|B;B	.|0.26969	.|0.075;0.075	T|T	0.38222|0.38222	-0.9671|-0.9671	5|10	.|0.14252	.|T	.|0.57	.|.	14.5456|14.5456	0.68027|0.68027	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|3970;4002	.|E7EUY0;P78527	.|.;PRKDC_HUMAN	L|L	77|4001;3970	.|ENSP00000313420:M4001L;ENSP00000345182:M3970L	.|ENSP00000313420:M4001L	H|M	-|-	2|1	0|0	PRKDC|PRKDC	48852838|48852838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.894000|0.894000	0.52154|0.52154	7.689000|7.689000	0.84165|0.84165	2.168000|2.168000	0.68352|0.68352	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.488	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640	
PXDNL	137902	broad.mit.edu	37	8	52384839	52384839	+	Silent	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr8:52384839C>T	ENST00000356297.4	-	8	820	c.720G>A	c.(718-720)ccG>ccA	p.P240P	PXDNL_ENST00000543296.1_Silent_p.P240P	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	240	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.P240P(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCACATCCTGCGGCTCAAAAG	0.423																																					p.P240P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G720A	8						.						124.0	116.0	118.0					8																	52384839		1851	4078	5929	52547392	SO:0001819	synonymous_variant	137902	exon8				CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.720G>A	8.37:g.52384839C>T		Somatic		Capture	Illumina HiSeq	Phase_I	52547392	NM_144651	B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	CCDS47855.1																																																																																				0.423	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
LY96	23643	broad.mit.edu	37	8	74922301	74922301	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr8:74922301C>T	ENST00000284818.2	+	3	359	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	LY96_ENST00000518893.1_Missense_Mutation_p.R60C	NM_015364.4	NP_056179	Q9Y6Y9	LY96_HUMAN	lymphocyte antigen 96	90					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|response to lipopolysaccharide (GO:0032496)|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)	endosome membrane (GO:0010008)|extracellular region (GO:0005576)|lipopolysaccharide receptor complex (GO:0046696)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|lipopolysaccharide receptor activity (GO:0001875)	p.R90C(2)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCTTCCAAAGCGCAAAGAAGT	0.343																																					p.R90C	GBM(131;1357 1748 34893 50149 52212)											.	.	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)	c.C268T	8						.						98.0	95.0	96.0					8																	74922301		2203	4300	6503	75084855	SO:0001583	missense	23643	exon3			AB018549	CCDS6216.1, CCDS56540.1	8q13.3	2004-01-22			ENSG00000154589	ENSG00000154589			17156	protein-coding gene	gene with protein product		605243				10359581, 11466383	Standard	NM_015364		Approved	MD-2	uc003yad.3	Q9Y6Y9	OTTHUMG00000164504	ENST00000284818.2:c.268C>T	8.37:g.74922301C>T	ENSP00000284818:p.Arg90Cys	Somatic		Capture	Illumina HiSeq	Phase_I	75084855	NM_015364	B3Y6A5|E5RJJ7	Missense_Mutation	SNP	ENST00000284818.2	37	CCDS6216.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119009	0.56505	.	.	ENSG00000154589	ENST00000284818;ENST00000518893	T;T	0.75938	-0.98;-0.98	4.66	3.71	0.42584	MD-2-related lipid-recognition (2);Immunoglobulin E-set (1);	0.108806	0.39544	N	0.001321	D	0.83266	0.5217	M	0.79123	2.44	0.42137	D	0.991494	D	0.89917	1.0	D	0.91635	0.999	T	0.82002	-0.0673	10	0.38643	T	0.18	.	9.5018	0.39022	0.2106:0.7894:0.0:0.0	.	90	Q9Y6Y9	LY96_HUMAN	C	90;60	ENSP00000284818:R90C;ENSP00000430533:R60C	ENSP00000284818:R90C	R	+	1	0	LY96	75084855	0.710000	0.27896	0.741000	0.31004	0.802000	0.45316	1.063000	0.30567	2.568000	0.86640	0.591000	0.81541	CGC		0.343	LY96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379032.2	NM_015364	
GEM	2669	broad.mit.edu	37	8	95272565	95272565	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr8:95272565C>T	ENST00000297596.2	-	2	431	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	GEM_ENST00000396194.2_Missense_Mutation_p.R56Q	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	56					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.R56Q(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)			GGACCAGCTTCGGCGGCAGTG	0.602																																					p.R56Q	GBM(125;80 1653 28655 32188 47338)|Esophageal Squamous(19;97 579 13602 49091 51766)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G167A	8						.						87.0	83.0	84.0					8																	95272565		2203	4300	6503	95341741	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.167G>A	8.37:g.95272565C>T	ENSP00000297596:p.Arg56Gln	Somatic		Capture	Illumina HiSeq	Phase_I	95341741	NM_181702	B2RA31	Missense_Mutation	SNP	ENST00000297596.2	37	CCDS6261.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381606	0.42207	.	.	ENSG00000164949	ENST00000396194;ENST00000297596;ENST00000523433	T;T;T	0.64260	-0.09;-0.09;1.55	5.48	4.56	0.56223	.	0.213930	0.47455	N	0.000231	T	0.54515	0.1863	L	0.57536	1.79	0.42590	D	0.993241	B	0.24920	0.114	B	0.12156	0.007	T	0.50634	-0.8805	10	0.13853	T	0.58	.	13.2865	0.60245	0.0:0.9198:0.0:0.0802	.	56	P55040	GEM_HUMAN	Q	56	ENSP00000379497:R56Q;ENSP00000297596:R56Q;ENSP00000428258:R56Q	ENSP00000297596:R56Q	R	-	2	0	GEM	95341741	0.425000	0.25498	1.000000	0.80357	0.991000	0.79684	1.133000	0.31430	1.225000	0.43566	-0.345000	0.07892	CGA		0.602	GEM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378566.1	NM_181702	
COL22A1	169044	broad.mit.edu	37	8	139890269	139890269	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr8:139890269T>C	ENST00000303045.6	-	3	828	c.382A>G	c.(382-384)Agc>Ggc	p.S128G	COL22A1_ENST00000435777.1_Missense_Mutation_p.S128G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	128	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.S128G(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)			GGGGAGAAGCTGCGGGCCGTG	0.716										HNSCC(7;0.00092)																											p.S128G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A382G	8						.						15.0	18.0	17.0					8																	139890269		2171	4218	6389	139959451	SO:0001583	missense	169044	exon3			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.382A>G	8.37:g.139890269T>C	ENSP00000303153:p.Ser128Gly	Somatic		Capture	Illumina HiSeq	Phase_I	139959451	NM_152888	B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.337479	0.60963	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.83335	-1.71;-1.71	5.2	4.06	0.47325	von Willebrand factor, type A (3);	0.221926	0.31123	U	0.008204	T	0.78679	0.4321	L	0.32530	0.975	0.41391	D	0.98761	P	0.48162	0.906	P	0.49922	0.626	T	0.76578	-0.2908	9	.	.	.	.	9.6501	0.39892	0.0:0.0821:0.0:0.9179	.	128	Q8NFW1	COMA1_HUMAN	G	128	ENSP00000303153:S128G;ENSP00000387655:S128G	.	S	-	1	0	COL22A1	139959451	1.000000	0.71417	0.994000	0.49952	0.399000	0.30720	4.728000	0.62000	1.935000	0.56089	0.533000	0.62120	AGC		0.716	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	
UAP1L1	91373	broad.mit.edu	37	9	139972548	139972549	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr9:139972548_139972549insG	ENST00000409858.3	+	2	368_369	c.336_337insG	c.(337-339)gggfs	p.G113fs	UAP1L1_ENST00000360271.3_5'Flank|UAP1L1_ENST00000476184.1_Intron	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	113							uridylyltransferase activity (GO:0070569)	p.Q115fs*41(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TGCTGCTGGCTGGGGGGCAGGG	0.678																																					p.A112fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.336_337insG	9						.																																			139092370	SO:0001589	frameshift_variant	91373	exon2			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.342dupG	9.37:g.139972554_139972554dupG	ENSP00000386935:p.Gly113fs	Somatic		Capture	Illumina HiSeq	Phase_I	139092369	NM_207309	A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Frame_Shift_Ins	INS	ENST00000409858.3	37	CCDS7028.2																																																																																				0.678	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055216.2	XM_038063	
OR13C8	138802	broad.mit.edu	37	9	107331915	107331915	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr9:107331915C>T	ENST00000335040.1	+	1	467	c.467C>T	c.(466-468)tCa>tTa	p.S156L		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S156L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CTTGTGGACTCAGTAGTGCAG	0.478																																					p.S156L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C467T	9						.						121.0	110.0	113.0					9																	107331915		2203	4300	6503	106371736	SO:0001583	missense	138802	exon1				CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.467C>T	9.37:g.107331915C>T	ENSP00000334068:p.Ser156Leu	Somatic		Capture	Illumina HiSeq	Phase_I	106371736	NM_001004483	Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.735962	0.30774	.	.	ENSG00000186943	ENST00000335040	T	0.43688	0.94	5.18	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.149916	0.31233	N	0.008018	T	0.65344	0.2682	M	0.89968	3.075	0.09310	N	1	D	0.63046	0.992	D	0.65773	0.938	T	0.59322	-0.7476	10	0.87932	D	0	.	9.0669	0.36469	0.0:0.769:0.1489:0.0821	.	156	Q8NGS7	O13C8_HUMAN	L	156	ENSP00000334068:S156L	ENSP00000334068:S156L	S	+	2	0	OR13C8	106371736	0.000000	0.05858	0.106000	0.21319	0.304000	0.27724	0.161000	0.16481	0.864000	0.35578	0.655000	0.94253	TCA		0.478	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
SVEP1	79987	broad.mit.edu	37	9	113308484	113308484	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	C	C	C	Unknown	Wildtype	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr9:113308484C>T	ENST00000401783.2	-	3	1211	c.875G>A	c.(874-876)gGa>gAa	p.G292E	SVEP1_ENST00000302728.8_Missense_Mutation_p.G292E|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.G269E|SVEP1_ENST00000374461.1_Missense_Mutation_p.G269E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	292					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			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						TTTGCAGCTTCCCATTCGGTC	0.448																																					p.G292E												.	.	0			c.G875A	9						.						88.0	83.0	85.0					9																	113308484		1974	4156	6130	112348305	SO:0001583	missense	79987	exon3			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.875G>A	9.37:g.113308484C>T	ENSP00000384917:p.Gly292Glu	None		Capture	Illumina HiSeq	Phase_I	112348305	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	36	5.756535	0.96898	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46	6.04	6.04	0.98038	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.93517	0.7931	N	0.14661	0.345	0.32956	D	0.520404	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.12837	0.002;0.002;0.008	D	0.91696	0.5370	10	0.87932	D	0	.	17.6095	0.88048	0.0:0.1233:0.8767:0.0	.	292;292;292	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	E	292;269;292;269	ENSP00000384917:G292E;ENSP00000363593:G269E;ENSP00000304118:G292E;ENSP00000363585:G269E	ENSP00000304118:G292E	G	-	2	0	SVEP1	112348305	1.000000	0.71417	0.997000	0.53966	0.878000	0.50629	7.627000	0.83176	1.585000	0.49928	-0.215000	0.12644	GGA		0.448	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TLR4	7099	broad.mit.edu	37	9	120475246	120475246	+	Silent	SNP	G	G	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr9:120475246G>C	ENST00000355622.6	+	3	941	c.840G>C	c.(838-840)ctG>ctC	p.L280L	TLR4_ENST00000394487.4_Silent_p.L240L|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	280					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.L280L(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)	TAGAGGGCCTGTGCAATTTGA	0.358																																					p.L280L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G840C	9						.						92.0	98.0	95.0					9																	120475246		2203	4300	6503	119515067	SO:0001819	synonymous_variant	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.840G>C	9.37:g.120475246G>C		Somatic		Capture	Illumina HiSeq	Phase_I	119515067	NM_138554	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	CCDS6818.1																																																																																				0.358	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554	
MPDZ	8777	broad.mit.edu	37	9	13158060	13158060	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr9:13158060C>T	ENST00000319217.7	-	24	3656	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K	MPDZ_ENST00000546205.1_Missense_Mutation_p.E1151K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E1137K|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1137K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1137K|MPDZ_ENST00000538841.1_Missense_Mutation_p.E29K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1137K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1137K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1137					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.E1137K(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)		TTTTGAAGTTCGCTTTCTTCA	0.408																																					p.E1137K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3409A	9						.						171.0	169.0	170.0					9																	13158060		1877	4113	5990	13148060	SO:0001583	missense	8777	exon23			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.3409G>A	9.37:g.13158060C>T	ENSP00000320006:p.Glu1137Lys	Somatic		Capture	Illumina HiSeq	Phase_I	13148060	NM_003829	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37		.	.	.	.	.	.	.	.	.	.	C	24.0	4.487157	0.84854	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359;ENST00000542239	T;T;T;T;T;T;T;T;T;T;T	0.44881	2.79;2.75;2.75;2.66;2.78;2.75;2.79;2.79;2.81;0.91;0.92	5.94	5.94	0.96194	.	0.135643	0.33496	N	0.004851	T	0.37210	0.0995	L	0.42245	1.32	0.80722	D	1	P;P;P;P;P	0.51351	0.944;0.523;0.912;0.555;0.927	B;B;B;B;B	0.41412	0.28;0.032;0.356;0.048;0.343	T	0.12451	-1.0547	10	0.10111	T	0.7	.	19.3618	0.94442	0.0:1.0:0.0:0.0	.	1137;29;1137;1087;1137	B7ZMI4;B7ZB24;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.	K	1137;1137;1137;143;29;1137;1137;1137;1087;1151;29;29	ENSP00000320006:E1137K;ENSP00000439807:E1137K;ENSP00000370410:E1137K;ENSP00000444230:E143K;ENSP00000444717:E29K;ENSP00000444151:E1137K;ENSP00000415208:E1137K;ENSP00000370403:E1137K;ENSP00000446358:E1151K;ENSP00000389705:E29K;ENSP00000443672:E29K	ENSP00000320006:E1137K	E	-	1	0	MPDZ	13148060	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.628000	0.61282	2.820000	0.97059	0.650000	0.86243	GAA		0.408	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
DAB2IP	153090	broad.mit.edu	37	9	124535281	124535281	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr9:124535281C>T	ENST00000408936.3	+	12	2656	c.2474C>T	c.(2473-2475)cCg>cTg	p.P825L	DAB2IP_ENST00000259371.2_Missense_Mutation_p.P797L|DAB2IP_ENST00000309989.1_Missense_Mutation_p.P701L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	825	Necessary for interaction with AKT1.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|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)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.P701L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGTTGGCACCGCTCTCCTTC	0.706																																					p.P797L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2390T	9						.						29.0	29.0	29.0					9																	124535281		2157	4196	6353	123575102	SO:0001583	missense	153090	exon12			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.2474C>T	9.37:g.124535281C>T	ENSP00000386183:p.Pro825Leu	Somatic		Capture	Illumina HiSeq	Phase_I	123575102	NM_032552	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	ENST00000408936.3	37		.	.	.	.	.	.	.	.	.	.	C	25.1	4.602399	0.87157	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.76348	-0.2992	10	0.87932	D	0	.	16.9563	0.86260	0.0:1.0:0.0:0.0	.	825;797	Q5VWQ8;G3XA90	DAB2P_HUMAN;.	L	797;825;734;701	ENSP00000259371:P797L;ENSP00000386183:P825L;ENSP00000362887:P734L;ENSP00000310827:P701L	ENSP00000259371:P797L	P	+	2	0	DAB2IP	123575102	1.000000	0.71417	0.950000	0.38849	0.942000	0.58702	5.522000	0.67092	2.317000	0.78254	0.462000	0.41574	CCG		0.706	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317857.1	NM_032552	
ANP32B	10541	broad.mit.edu	37	9	100760918	100760918	+	Silent	SNP	A	A	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr9:100760918A>G	ENST00000339399.4	+	3	480	c.285A>G	c.(283-285)ttA>ttG	p.L95L	ANP32B_ENST00000473205.1_3'UTR	NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	95					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)	p.L95L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				ATCTAAACTTAAGTGGAAATA	0.358																																					p.L95L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A285G	9						.						99.0	96.0	97.0					9																	100760918		2203	4300	6503	99800739	SO:0001819	synonymous_variant	10541	exon3			Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"""ANP32 acidic nuclear phosphoproteins"""	16677	protein-coding gene	gene with protein product	"""acidic protein rich in leucines"""					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.285A>G	9.37:g.100760918A>G		Somatic		Capture	Illumina HiSeq	Phase_I	99800739	NM_006401	B2R9C7|O00655|P78458|P78459	Silent	SNP	ENST00000339399.4	37	CCDS6732.1																																																																																				0.358	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053346.4	NM_006401	
CACNA1B	774	broad.mit.edu	37	9	141016063	141016064	+	Missense_Mutation	DNP	TC	TC	AG			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	TC	TC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chr9:141016063_141016064TC>AG	ENST00000371372.1	+	47	6777_6778	c.6632_6633TC>AG	c.(6631-6633)aTC>aAG	p.I2211K	CACNA1B_ENST00000371357.1_Missense_Mutation_p.I2210K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.I2212K|CACNA1B_ENST00000277549.5_Missense_Mutation_p.I1405K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.I2209K|CACNA1B_ENST00000277551.2_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	2211					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.I2211>?(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)	TCCTCACCCATCCACTTCGCCG	0.698																																					.												.	.	1	Complex(1)	large_intestine(1)	c.6632_6633AG	9						.																																			140135885	SO:0001583	missense	774	exon46			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	Exception_encountered	9.37:g.141016063_141016064delinsAG	ENSP00000360423:p.Ile2211Lys	Somatic		Capture	Illumina HiSeq	Phase_I	140135884	NM_000718	B1AQK5	Missense_Mutation	DNP	ENST00000371372.1	37	CCDS59522.1																																																																																				0.698	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
BCOR	54880	broad.mit.edu	37	X	39933139	39933140	+	Frame_Shift_Ins	INS	-	-	GTGT			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	-	-	-	GTGT	-	-	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chrX:39933139_39933140insGTGT	ENST00000378444.4	-	4	1687_1688	c.1459_1460insACAC	c.(1459-1461)ctafs	p.L487fs	BCOR_ENST00000378455.4_Frame_Shift_Ins_p.L487fs|BCOR_ENST00000342274.4_Frame_Shift_Ins_p.L487fs|BCOR_ENST00000397354.3_Frame_Shift_Ins_p.L487fs	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	487					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.L487fs*13(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						TGGAGGAGATAGTGTTTCTTTC	0.515			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																														p.L487fs			Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1460_1461insACAC	X						.																																			39818084	SO:0001589	frameshift_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.1456_1459dupACAC	X.37:g.39933140_39933143dupGTGT	ENSP00000367705:p.Leu487fs	Somatic		Capture	Illumina HiSeq	Phase_I	39818083	NM_001123383	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Frame_Shift_Ins	INS	ENST00000378444.4	37	CCDS48093.1																																																																																				0.515	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
ESX1	80712	broad.mit.edu	37	X	103494959	103494959	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chrX:103494959T>C	ENST00000372588.4	-	4	1254	c.1171A>G	c.(1171-1173)Atc>Gtc	p.I391V		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	391					labyrinthine layer blood vessel development (GO:0060716)|labyrinthine layer morphogenesis (GO:0060713)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 (GO:0043565)	p.I391V(1)		endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCCCATGTGATGTGTACAGGA	0.552																																					p.I391V	Pancreas(200;1705 2227 25194 28471 45274)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1171G	X						.						56.0	55.0	55.0					X																	103494959		2203	4300	6503	103381615	SO:0001583	missense	80712	exon4			AL049631	CCDS14516.1	Xq22.2	2011-06-20	2007-07-11	2006-02-08	ENSG00000123576	ENSG00000123576		"""Homeoboxes / PRD class"""	14865	protein-coding gene	gene with protein product		300154	"""extraembryonic, spermatogenesis, homeobox 1 homolog (mouse)"""	ESX1L		11374906, 17242862	Standard	NM_153448		Approved	ESXR1	uc004ely.3	Q8N693	OTTHUMG00000022125	ENST00000372588.4:c.1171A>G	X.37:g.103494959T>C	ENSP00000361669:p.Ile391Val	Somatic		Capture	Illumina HiSeq	Phase_I	103381615	NM_153448	B0QYU3|Q7Z6K7	Missense_Mutation	SNP	ENST00000372588.4	37	CCDS14516.1	.	.	.	.	.	.	.	.	.	.	T	6.541	0.468103	0.12461	.	.	ENSG00000123576	ENST00000372588	T	0.60797	0.16	4.64	-9.28	0.00656	.	.	.	.	.	T	0.45836	0.1362	L	0.55481	1.735	0.09310	N	1	B	0.14438	0.01	B	0.11329	0.006	T	0.50857	-0.8778	9	0.87932	D	0	0.1386	8.4469	0.32847	0.071:0.0809:0.208:0.6401	.	391	Q8N693	ESX1_HUMAN	V	391	ENSP00000361669:I391V	ENSP00000361669:I391V	I	-	1	0	ESX1	103381615	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.832000	0.27490	-5.161000	0.00020	-1.026000	0.02426	ATC		0.552	ESX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057763.2	NM_153448	
GPC3	2719	broad.mit.edu	37	X	132670253	132670253	+	Missense_Mutation	SNP	C	C	T	rs372317881		TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chrX:132670253C>T	ENST00000370818.3	-	8	2087	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	GPC3_ENST00000394299.2_Missense_Mutation_p.E571K|GPC3_ENST00000543339.1_Missense_Mutation_p.E494K	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	548					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.E548K(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTGCTTATCTCGTTGTCCTTC	0.507			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																												p.E532K		yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1594A	X						.	C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,3834		0,1,1631,571	297.0	231.0	254.0		1711,1594,1480,1642	4.8	0.4	X		254	0,6728		0,0,2428,1872	no	missense,missense,missense,missense	GPC3	NM_001164617.1,NM_001164618.1,NM_001164619.1,NM_004484.3	56,56,56,56	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	571/604,532/565,494/527,548/581	132670253	1,10562	2203	4300	6503	132497919	SO:0001583	missense	2719	exon8	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1642G>A	X.37:g.132670253C>T	ENSP00000359854:p.Glu548Lys	Somatic		Capture	Illumina HiSeq	Phase_I	132497919	NM_001164618	C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675049	0.29783	2.61E-4	0.0	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.50001	0.76;0.76;0.76	4.85	4.85	0.62838	.	0.327928	0.30850	N	0.008741	T	0.28764	0.0713	N	0.22421	0.69	0.27711	N	0.945448	P;P;P;P	0.50710	0.691;0.938;0.727;0.691	B;B;B;B	0.35859	0.09;0.212;0.032;0.081	T	0.16335	-1.0406	10	0.27785	T	0.31	.	12.4553	0.55700	0.0:1.0:0.0:0.0	.	532;494;571;548	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	K	548;571;494	ENSP00000359854:E548K;ENSP00000377836:E571K;ENSP00000444222:E494K	ENSP00000359854:E548K	E	-	1	0	GPC3	132497919	0.985000	0.35326	0.385000	0.26158	0.006000	0.05464	3.834000	0.55798	1.987000	0.57996	0.594000	0.82650	GAG		0.507	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484	
GNL3L	54552	broad.mit.edu	37	X	54565497	54565497	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chrX:54565497C>T	ENST00000336470.4	+	3	183	c.44C>T	c.(43-45)tCc>tTc	p.S15F	GNL3L_ENST00000360845.2_Missense_Mutation_p.S15F|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	15	Required for nucleolar localization.				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.S15F(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GGTGAAGGTTCCAAGGGCCAC	0.448																																					p.S15F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C44T	X						.						61.0	49.0	53.0					X																	54565497		2203	4300	6503	54582222	SO:0001583	missense	54552	exon3			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.44C>T	X.37:g.54565497C>T	ENSP00000338573:p.Ser15Phe	Somatic		Capture	Illumina HiSeq	Phase_I	54582222	NM_019067		Missense_Mutation	SNP	ENST00000336470.4	37	CCDS14360.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965866	0.34659	.	.	ENSG00000130119	ENST00000336470;ENST00000360845	T;T	0.20881	2.04;2.04	3.79	3.79	0.43588	.	0.192341	0.43747	D	0.000531	T	0.15609	0.0376	L	0.27053	0.805	0.36131	D	0.846129	P	0.52061	0.95	B	0.43082	0.407	T	0.12218	-1.0556	10	0.62326	D	0.03	-19.5931	10.081	0.42391	0.0:1.0:0.0:0.0	.	15	Q9NVN8	GNL3L_HUMAN	F	15	ENSP00000338573:S15F;ENSP00000354091:S15F	ENSP00000338573:S15F	S	+	2	0	GNL3L	54582222	1.000000	0.71417	0.989000	0.46669	0.040000	0.13550	2.910000	0.48766	2.131000	0.65755	0.594000	0.82650	TCC		0.448	GNL3L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056805.1	NM_019067	
MCF2	4168	broad.mit.edu	37	X	138698562	138698562	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454_PCR_WGA			Illumina GAIIx	TCGA-AA-3930-01A-01W-0995-10	TCGA-AA-3930-10A-01W-0995-10	g.chrX:138698562T>G	ENST00000370576.4	-	9	1279	c.1070A>C	c.(1069-1071)gAa>gCa	p.E357A	MCF2_ENST00000370578.4_Missense_Mutation_p.E502A|MCF2_ENST00000338585.6_Missense_Mutation_p.E357A|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000414978.1_Missense_Mutation_p.E417A|MCF2_ENST00000520602.1_Missense_Mutation_p.E417A|MCF2_ENST00000536274.1_Missense_Mutation_p.E318A|MCF2_ENST00000519895.1_Missense_Mutation_p.E417A|MCF2_ENST00000370573.4_Missense_Mutation_p.E357A	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	357					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.E357A(1)|p.E417A(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)					CTGAGCATCTTCTTTAGACTG	0.343																																					p.E417A												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1250C	X						.						56.0	55.0	55.0					X																	138698562		2201	4296	6497	138526228	SO:0001583	missense	4168	exon12				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.1070A>C	X.37:g.138698562T>G	ENSP00000359608:p.Glu357Ala	Somatic		Capture	Illumina HiSeq	Phase_I	138526228	NM_001099855	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.490519	0.84962	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.51574	1.01;0.89;0.7;0.97;1.01;1.05;0.93;0.94	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.70193	0.3196	M	0.81497	2.545	0.44469	D	0.997404	D;D;D;D;D;D;D;D	0.89917	0.991;1.0;0.995;0.991;0.999;0.991;1.0;0.998	D;D;D;D;D;D;D;D	0.91635	0.979;0.998;0.991;0.979;0.987;0.979;0.999;0.979	T	0.74518	-0.3639	10	0.66056	D	0.02	.	14.2425	0.65966	0.0:0.0:0.0:1.0	.	417;502;318;357;357;502;357;357	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	A	417;357;318;502;417;417;357;357	ENSP00000427745:E417A;ENSP00000359608:E357A;ENSP00000438155:E318A;ENSP00000359610:E502A;ENSP00000397055:E417A;ENSP00000430276:E417A;ENSP00000359605:E357A;ENSP00000342204:E357A	ENSP00000342204:E357A	E	-	2	0	MCF2	138526228	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.749000	0.68704	1.962000	0.57031	0.441000	0.28932	GAA		0.343	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
